Gene:
ABCB1
ATP-binding cassette, sub-family B (MDR/TAP), member 1

Overview

Alternate Names: ATP-BINDING CASSETTE, SUBFAMILY B, MEMBER 1; ABCB1; ATP-binding cassette, subfamily B, member 1; DOXORUBICIN RESISTANCE; Homo sapiens ATP-binding cassette, sub-family B (MDR/TAP), member 1 (ABCB1), mRNA.; P glycoprotein 1; P glycoprotein 1/multiple drug resistance 1; P-GLYCOPROTEIN 1; PGY1; P-glycoprotein 1; P-glycoprotein-1/multiple drug resistance-1; colchicin sensitivity; doxorubicin resistance; multidrug resistance 1; multidrug resistance protein 1
Alternate Symbols: ABC20; ABCB1; CD243; CLCS; GP170; MDR1; MGC163296; NM_000927.1; P-GP; P-gp; PGY1
PharmGKB Accession Id: PA267

Details

Cytogenetic Location: chr7 : q21.12
GP mRNA Boundary: chr7 : 86970884 - 87180500
GP Gene Boundary: chr7 : 86967884 - 87190500
Strand: minus
Product Name: ATP-binding cassette sub-family B member 1, P glycoprotein 1, colchicin sensitivity, doxorubicin resistance, multidrug resistance 1
The mRNA boundaries are calculated using the gene's default feature set from NCBI, mapped onto the UCSC Golden Path. PharmGKB sets gene boundaries by expanding the mRNA boundaries by no less than 10,000 bases upstream (5') and 3,000 bases downstream (3') to allow for potential regulatory regions.

Introduction

View Full VIP Annotation

The ABCB1 gene is a member of the ATP-binding cassette (ABC) transporter superfamily. The gene is also known as the multidrug-resistance 1 (MDR1) gene and its protein product is called P-glycoprotein (P-gp). ABCB1 is expressed in barrier and excretory tissues that have protective or elimination roles, such as the intestines, liver, kidney, blood-brain barrier, and placenta. ABCB1 over-expression in tumors has been implicated in multidrug resistance to cancer chemotherapeutic agents. Located on the plasma membrane, P-gp can transport a wide range of endogenous and exogenous compounds out of the cell [PMID: 10331089]. Substrates of P-gp include anticancer agents, cardiac drugs and HIV protease inhibitors. Studies have demonstrated the existence of interindividual variability in P-gp expression and function as well as clinical phenotypes related to P-gp [PMID: 7473127].

ABCB1 is located on chromosome 7q21.1 and was originally cloned by Riordan et al. in 1985 [PMID: 2863759]. The gene consists of 29 exons spanning nearly 200 kb of genomic DNA; however only 27 exons code for P-gp. There are multiple transcriptional start sites but the primary start site produces an mRNA transcript of 4360 bp that contains 28 exons. Currently, there is no evidence for the existence of splice variants. P-glycoprotein has 1280 amino acids, 12 transmembrane domains and two ATP-binding domains [PMID: 10331089].

ABCB1 has approximately 116 polymorphic sites in Caucasians and 127 in African Americans with a minor allele frequency greater than 5% (www.hapmap.org [PMID: 12893986, 11503014, 10716719]). Some of the most commonly studied variants are 1236C>T, 2677G>A/T and 3435C>T and the most commonly studied haplotype involves the 1236, 2677 and 3435 SNPs. There are many other ABCB1 variants such as -129C>T (5'-UTR), 61A>G (Asn21Asp) and 1199G>A (Ser400Asn) that have been studied in vivo and in vitro. To date, there is no clear consensus on the impact of any of these variants on drug disposition, response or toxicity. For the most commonly studied phenotypes, i.e. intestinal absorption and CNS penetration, discordant results have been published and appropriately powered studies are still needed to clarify these results. Helpful review papers have been written that summarize the substantial body of work covering ABCB1 polymorphisms and their potential impact on cellular and clinical phenotypes [PMID: 12505329, 12406646, 14749689, 15212152].

In-Depth Annotations (In-Depth Annotation)

  1. rs1045642 at chr7:86976581 in ABCB1
    This SNP is well-studied but there is no clear consensus on its significance for drug disposition, response or toxicity.
    Variant Name:
    ABCB1:3435C>T
    Evidence:
    http://www.pharmgkb.org/.../variant.jsp#ImportantVariantInformationforABCB1-3435
  2. rs1045642 at chr7:86976581 in ABCB1
    3435TT homozygotes showed statistically different fenofexadine area under the concentration curve (AUC) values for 0-4 hours (p = 0.036) than CC homozygotes.
    Variant Name:
    ABCB1:3435C>T (ABCB1:3853C>T (dbSNP build 130))
    Related Drugs:
    fexofenadine
    Evidence:
    PMID:11503014
  3. rs1045642 at chr7:86976581 in ABCB1
    There was no significant association between the genotype C3435T distribution and the risk of Cyclosporin A failure in steroid resistance ulcerative colitis (p = 0.23).
    Variant Name:
    ABCB1:3435C>T (ABCB1:3853C>T (dbSNP build 130))
    Related Drugs:
    cyclosporine
    Related Diseases:
    Colitis, Ulcerative
    Evidence:
    PMID:17206635
  4. rs2032582 at chr7:86998554 in ABCB1
    This SNP is well-studied but there is no clear consensus on its significance for drug disposition, response or toxicity.
    Variant Name:
    ABCB1:2677G>A/T
    Evidence:
    http://www.pharmgkb.org/.../variant.jsp#ImportantVariantInformationforABCB1-2677
  5. rs2032582 at chr7:86998554 in ABCB1
    893Ser-expressing (ABCB1:2677G>T (Ala893Ser)) cells showed 47% lower intracellular digoxin concentration (p < .002) than Ala893-expressing cells; and 893Ser/Ser homozygotes showed statistically different fenofexadine area under the concentration curve (AUC) values for 0-4 hours (p = 0.054) than 893Ala/Ala homozygotes.
    Variant Name:
    ABCB1:2677G>T/A (ABCB1:3095G>T/A (dbSNP build 130)) (Ala893Ser/Thr)
    Related Drugs:
    digoxin, fexofenadine
    Evidence:
    PMID:11503014
  6. rs2032582 at chr7:86998554 in ABCB1
    There is a significant association between the G2677T/A polymorphism distribution and the risk for cyclosporin A (CsA) failure in patients from France and Belgium with steroid resistance ulcerative colitis (p = 0.0001), defined as requiring colectomy within 30 days of CsA initiation. The 2677 TT genotype was significantly associated with the risk compared with the two other genotypes (odds ratio, 3.77; 95% confidence interval, 1.42-9.97, p = 0.007).
    Variant Name:
    ABCB1:2677G>T/A (ABCB1:3095G>T/A (dbSNP build 130)) (Ala893Ser/Thr)
    Related Drugs:
    cyclosporine
    Related Diseases:
    Colitis, Ulcerative
    Evidence:
    PMID:17206635
  7. rs2032582 at chr7:86998554 in ABCB1
    The non-alanine bearing ABCB1:2677G>T/A variant is predictive of tacrolimus-induced neurotoxicity in patients after liver transplantation
    Variant Name:
    ABCB1:2677G>T/A (3095G>T/A (dbSNP build 130)) (Ala893Ser/Thr)
    Related Drugs:
    tacrolimus
    Related Diseases:
    liver transplantation
    Evidence:
    PMID:12352921
  8. rs1128503 at chr7:87017537 in ABCB1
    This SNP is well known, but there is no clear consensus on its significance for drug disposition, response or toxicity.
    Variant Name:
    ABCB1:1236C>T
    Evidence:
    http://www.pharmgkb.org/.../variant.jsp#ImportantVariantInformationforABCB1-1236

Curated Annotations (Curated Annotation)

  1. rs1045642 at chr7:86976581 in ABCB1
    rs1045642 is associated with altered inhibition by verapamil and cyclosporin A of substrate uptake in vitro.
    Variant Name:
    ABCB1:C3435T
    Related Drugs:
    cyclosporine, verapamil
    Evidence:
    PMID:17185560
  2. rs1045642 at chr7:86976581 in ABCB1
    Individuals that are homozygotes for 3435T alleles of ABCB1 have increased risk of developing nortriptyline-induced postural hypotension.This variant is also associated with expression level and in vivo function of ABCB1.
    Variant Name:
    ABCB1: 3435C>T
    Related Drugs:
    nortriptyline
    Related Diseases:
    Depression, Depressive Disorder, Depressive Disorder, Major, Hypotension
    Evidence:
    PMID:12082591
  3. rs1045642 at chr7:86976581 in ABCB1
    The T allele of this SNP is associated with nortriptyline-induced postural hypotension in patients treated for major depression. This SNP is not associated with response to treatment with nortriptyline or fluoxetine.
    Variant Name:
    ABCB1:3435C>T
    Related Drugs:
    nortriptyline
    Related Diseases:
    Hypotension, Orthostatic
    Evidence:
    PMID:12082591
  4. rs1045642 at chr7:86976581 in ABCB1
    Indian rheumatoid arthritis patients heterozygous for this SNP (CT genotype) had about double the risk of non-response to methotrexate.
    Variant Name:
    ABCB1:C3435T, MDR1:C3435T
    Related Drugs:
    methotrexate
    Related Diseases:
    Arthritis, Rheumatoid
    Evidence:
    PMID:19093297
  5. rs1045642 at chr7:86976581 in ABCB1
    The C3435T variant (rs1045642) at exon 26 in the ABCB1 was showed to influence clopidogrel absorption in patients with a cardiovascular disease. Plasma concentrations of clopidogrel and its active metabolite were reduced in patients carrying the TT genotype.
    Variant Name:
    ABCB1: C3435T
    Related Drugs:
    clopidogrel
    Related Diseases:
    Cardiovascular Diseases
    Evidence:
    PMID:17112805
    PMID:19106083
  6. rs1045642 at chr7:86976581 in ABCB1
    (R)-lansoprazole concentrations significantly increased in CYP2C19 extensive metabolizers with the ABCB1 C3435T C allele, but not TT genotype, after renal transplantation and treatment with tacrolimus and lansoprazole.
    Variant Name:
    ABCB1:3435C>T
    Related Drugs:
    lansoprazole, tacrolimus
    Related Diseases:
    Gastroesophageal Reflux, Transplantation
    Evidence:
    PMID:17190370
  7. rs1045642 at chr7:86976581 in ABCB1
    In a study of HIV patients in South Africa, participants who experienced hepatotoxicity were less likely to have at least one T allele of the variant ABCB1:3435C>T.
    Variant Name:
    ABCB1:3435C>T, MDR1 3435C>T
    Related Drugs:
    efavirenz
    Related Diseases:
    HIV
    Evidence:
    PMID:16912957
  8. rs1045642 at chr7:86976581 in ABCB1
    Decreased risk of hepatotoxicity was associated with ABCB1:3435C>T in a study of HIV patients receiving either efavirenz- or nevirapine-containing drug regimens.
    Variant Name:
    ABCB1:3435C>T, MDR1 3435C>T
    Related Drugs:
    efavirenz, nevirapine
    Related Diseases:
    HIV
    Evidence:
    PMID:16912956
  9. rs1045642 at chr7:86976581 in ABCB1
    Patients with this variant with metastatic breast cancer treated with palitaxel showed a significantly lower disease control rate and lower overall survival rate than the CC variant allele.
    Variant Name:
    ABCB1:3435 C>T
    Related Drugs:
    paclitaxel
    Related Diseases:
    Breast Neoplasms
    Evidence:
    PMID:18836089
  10. rs1045642 at chr7:86976581 in ABCB1
    Patients with both rs1045642 and rs2032582 variants have been associated with neutropenia from paclitaxel.
    Variant Name:
    ABCB1:3435 C>T
    Related Drugs:
    paclitaxel
    Related Diseases:
    Neutropenia
    Evidence:
    PMID:16950614
  11. rs1045642 at chr7:86976581 in ABCB1
    In Slovak (White) breast cancer patients (n=221) receiving anthracycline-based chemotherapy, the CC genotype of ABCB1:3435C>T was associated with longer time to progression.
    Variant Name:
    ABCB1:3435C>T; MDR1 C3435T
    Related Drugs:
    doxorubicin, epirubicin
    Related Diseases:
    Breast Neoplasms
    Evidence:
    PMID:19752884
  12. rs1045642 at chr7:86976581 in ABCB1
    Risk or phenotype-associated allele: T. Phenotype: In subjects carrying one or two T alleles of this variant, the plasma olanzapine level alone was positively associated with percent change in Brief Psychiatric Rating Scale (BPRS) score. As olanzapine plasma levels increased, the BPRS score increased. Study size: 41. Study population/ethnicity: Patients with schizophrenia; > 90% Caucasian. Significance metric(s): p = 0.02. Type of association: CO.
    Variant Name:
    PGP C3435T; ABCB1:3435C>T
    Related Drugs:
    olanzapine
    Related Diseases:
    Schizophrenia
    Evidence:
    PMID:17038883
  13. rs1045642 at chr7:86976581 in ABCB1
    Functional study of rs1045642 (3435C>T) and rs1128503 (2677G>T/A): in LLC-PK1 cells expressing wild-type (2677G/3435C) or polymorphic (2677G/3435T, 2677A/3435C, 2677A/3435T, 2677T/3435C, 2677T/3435T) constructs of ABCB1 in vitro, no significant differences were observed in transcellular efflux of structurally diverse P-gp substrates, verapamil, digoxin, vinblastine or cyclosporin A.
    Variant Name:
    ABCB1: c.3435C>T, mRNA 3853C>T
    Related Drugs:
    cyclosporine, digoxin, verapamil, vinblastine
    Evidence:
    PMID:12781336
  14. rs1045642 at chr7:86976581 in ABCB1
    Functional study of rs1045642 (3435C>T) and rs2032582 (2677G>T/A): in LLC-PK1 cells expressing wild-type (2677G/3435C) or polymorphic (2677G/3435T, 2677A/3435C, 2677A/3435T, 2677T/3435C, 2677T/3435T) constructs of ABCB1 in vitro, no significant differences were observed in transcellular efflux of structurally diverse P-gp substrates, verapamil, digoxin, vinblastine or cyclosporin A.
    Variant Name:
    ABCB1: c.3435C>T, mRNA 3853C>T, p.Ile1145Ile
    Related Drugs:
    cyclosporine, digoxin, verapamil, vinblastine
    Evidence:
    PMID:12781336
  15. rs1045642 at chr7:86976581 in ABCB1
    No significant association between allelic ABCB1 variants, C3435T (rs1045642) and G2677T/A (Ala893Ser) (rs2032582), and phase 1 or phase 2 viral decay, changes in lymphocyte subsets over time, or plasma trough ritonavir concentrations among 31 HIV-infected individuals initiating antiretroviral therapy.
    Variant Name:
    ABCB1: c.3435C>T, mRNA 3853C>T, p.Ile1145Ile
    Related Drugs:
    ritonavir
    Evidence:
    PMID:14600574
  16. rs1045642 at chr7:86976581 in ABCB1
    Haplotypes derived from the SNPs 2677G > T (rs2032582) and 3435C > T (rs1045642) do not influence the pharmacokinetics of tacrolimus in renal transplant patients
    Variant Name:
    ABCB1: c.3435C>T, mRNA 3853C>T
    Related Drugs:
    tacrolimus
    Related Diseases:
    Transplantation
    Evidence:
    PMID:15521904
  17. rs1045642 at chr7:86976581 in ABCB1
    ABCB1 rs2032582 and rs1045642 genotype and peripheral blood lymphocyte efflux of P-gp substrate, rhodamine 123 (Rh123), in vitro, in healthy males: there was no significant difference in Rh123 efflux in CD56+ NK cells after 5, 10, 15, and 30 min efflux, or in CD4+ T-helper cells after 15, 30, 60, and 90 min between individuals with different genotypes. Rh123 efflux was not enhanced by a 10-day administration of P-gp inducer, rifampin, in vivo in 15 individuals before and after rifampin treatment. No genotypic effect was observed for inhibition of Rh123 efflux by P-pg inhibitor, verapamil, in vitro with CD56+ and CD4+.
    Variant Name:
    ABCB1:3435C>T, mRNA 3853C>T, Ile1145Ile
    Related Drugs:
    rifampin, verapamil
    Evidence:
    PMID:12914549
  18. rs1045642 at chr7:86976581 in ABCB1
    Risk or phenotype-associated allele: None. Phenotype: Efflux of P-glycoprotein substrates (verapamil; digoxin; vinblastine; cyclosporin A) in vitro were not significantly affected by combined mutations for rs1128503 (2677G>T/A) and rs1045642 (3435C>T) in LLC-PK1 cell lines. Study size: Triplicate cell assays. Study population/ethnicity: N/A. Significance metric(s): Not significant, p > 0.05. Type of association: FA
    Variant Name:
    ABCB1:3435C>T, mRNA 3853C>T, Ile1145Ile
    Related Drugs:
    cyclosporine, digoxin, verapamil, vinblastine
    Evidence:
    PMID:12781336
  19. rs1045642 at chr7:86976581 in ABCB1
    Risk or phenotype-associated allele: 3435 CT and TT genotypes. Phenotype: ABCB1 polymorphisms were associated with risk for coronary artery disease (CAD) (p<0.05). Carriers of 3435 CT and TT genotypes (63%) and 2677 non-GG (non 893Ala/Ala) genotypes (64%) had higher frequency of family history of coronary artery disease (CAD) than the 3435CC (44%, p = 0.042) and 2677GG (46%, p = 0.043) carriers. The frequency of CAD in those carrying the 3435/2677 T/T haplotype (67%) was higher than that found in 3435/2677 non-T/T individuals (47%, p = 0.021). ABCB1 substrates (antiarrhythmics, beta-blockers, diuretics, ACE inhibitors, and others) or inhibitors (antiarrhythmics, calcium antagonists, calcium channel blockers, antidepressants and others) did not affect the baseline ABCB1 expression, but ABCB1 inhibitors reversed the effects of atorvastatin on both ABCB1 and ABCC1 transporters. Study size: 136. Study population/ethnicity: Hypercholesterolemic individuals, treated with atorvastatin (10mg/day/4 weeks), evaluated for CAD risk factors at the Institute Dante Pazzanese of Cardiology and the Hospital of the Sao Paulo University in Sao Paulo City, Brazil. Significance metric(s): p < 0.05. Type of association: GN; PD; FA
    Variant Name:
    ABCB1:3435C>T, mRNA 3853C>T, Ile1145Ile
    Related Drugs:
    atorvastatin
    Related Diseases:
    Coronary Artery Disease, Hypercholesterolemia
    Evidence:
    PMID:18851956
  20. rs1045642 at chr7:86976581 in ABCB1
    Clinical outcome and P-gp activity was studied in Asian patients with de novo acute myeloid leukemia taking cytarabine and idarubicin, relative to ABCB1 genotypes, C3435T (rs1045642) and G2677T/A (rs2032582, Ala893Ser/Thr). Three-year event-free survival (EFS) was higher in 2677 GG homozygotes (893Ala/Ala) (60.6%) versus non-GG genotypes (893Ser allele-harboring subjects) (21.9%; p = 0.02), and in 3435 CC homozygotes versus non-CC genotypes (p = 0.01), and for 2677GG (893Ala/Ala)/3435CC diplotypes (58.2%) versus other diplotypes (22.6%; p = 0.04); although no significant genotypic or haplotypic association was observed for overall survival (OS). The rate of complete remission was significantly higher in 3435 CC (p = 0.05) and 2677 GG (893Ala/Ala) (p = 0.04) homozygotes, and for the 3435CC/2677GG diplotype (p = 0.03) compared to non-GC haplotype homozygotes. Using an in vitro daunorubicin accumulation assay with leukemic mononuclear cells from AML patients, 3435 CC homozygotes showed significantly lower P-gp activity (7.5%) than for CT (10.7%) and TT (19.9%) genotypes (p = 0.029); and G2677T/A (Ala893Ser/Thr) genotype had no effect (p = 0.181).
    Variant Name:
    ABCB1:3435C>T, mRNA 3853C>T, p.Ile1145Ile
    Related Drugs:
    cytarabine, idarubicin
    Related Diseases:
    Leukemia, Myeloid, Acute
    Evidence:
    PMID:16331627
  21. rs1045642 at chr7:86976581 in ABCB1
    Risk or phenotype-associated allele: none. Phenotype: There was no significant association between systemic exposure of tipifarnib (AUC levels) and rs1045642 genotype. Study size: 28 (16 male). Study population/ethnicity: Caucasian cancer patients, aged 34-75. Significance metric(s): Not significant, p = 0.92. Type of association: GN; PK
    Variant Name:
    ABCB1: c.3435C>T, mRNA 3853C>T, p.Ile1145Ile; ABCB1*6
    Related Drugs:
    Tipifarnib
    Evidence:
    PMID:15122075
  22. rs1045642 at chr7:86976581 in ABCB1
    Risk or phenotype-associated allele: C. Phenotype: This variant is associated with nevirapine-induced hepatotoxicity in patients from Mozambique, with the T allele showing a protective effect. Study size: 156 (78 with nevirapine-induced hepatotoxicity and 78 without adverse events). Study population/ethnicity: HIV infected patients from Mozambique. Significance metric(s): p = 0.038; odds ratio: 0.42. Type of association: GN; CO
    Variant Name:
    c.3435C>T
    Related Drugs:
    nevirapine
    Related Diseases:
    Drug Toxicity, HIV Infections
    Evidence:
    PMID:20017669
  23. rs72552784 at chr7:86983850 in ABCB1
    Drug efflux and cell surface expression (by MRK-16 and C219 probes) of P-gp was not different between wild-type and variant forms (single mutants: N21D, F103L, S400N, A893S, A998T, and double mutants: 21D-S400N, N21D-A893S, and S400N-A893S) in an in vitro vaccinia virus-based transient expression system. Fluroescent substrates included calcein AM, bodipy-FL-forskolin, bodipy-FL-verapamil, bodipy-FL-vinblastine, bodipy-FL-prazosin, bisantrene, and bodipy-FL-paclitaxel. There was a slight increase in wild-type P-gp efflux of bodipy-FL-paclitaxel over mutants.
    Variant Name:
    ABCB1: c.2995G>A, mRNA 3413G>A, p.Ala999Thr
    Related Drugs:
    bisantrene, calcein, forskolin, prazosin, verapamil, vinblastine
    Evidence:
    PMID:12065748
  24. rs4148740 at chr7:86990039 in ABCB1
    This variant is associated with differences in clinical efficacy of antidepressants, most likely by influencing their access to the brain.
    Related Drugs:
    amitriptyline, citalopram, paroxetine, venlafaxine
    Related Diseases:
    Depression
    Evidence:
    PMID:18215618
  25. rs10280101 at chr7:86991521 in ABCB1
    This variant is associated with differences in clinical efficacy of antidepressants, most likely by influencing their access to the brain.
    Related Drugs:
    amitriptyline, citalopram, paroxetine, venlafaxine
    Related Diseases:
    Depression
    Evidence:
    PMID:18215618
  26. rs7787082 at chr7:86994987 in ABCB1
    This variant is associated with differences in clinical efficacy of antidepressants, most likely by influencing their access to the brain.
    Related Drugs:
    amitriptyline, citalopram, paroxetine, venlafaxine
    Related Diseases:
    Depression
    Evidence:
    PMID:18215618
  27. rs2032583 at chr7:86998497 in ABCB1
    This variant is associated with differences in clinical efficacy of antidepressants, most likely by influencing their access to the brain.
    Related Drugs:
    amitriptyline, citalopram, paroxetine, venlafaxine
    Related Diseases:
    Depression
    Evidence:
    PMID:18215618
  28. rs2032582 at chr7:86998554 in ABCB1
    In multiple myeloma patients treated with dexamethasone, doxorubicin, and vincristine, followed by autologous stem cell transformation (ASCT), treatment efficacy was not related to this variant. However, the overall survival of patients with the G/G genotype of this variant was significantly lower than that of patients carrying T/T or G/T alleles. In ASCT nonresponders, diplotype analysis of this variant together with another variant (ABCB1 C3435T) showed that GC/GC patients survived for less time than GC/TT and TT/TT patients.
    Variant Name:
    MDR1 G2677T/A, MDR1 (2677G, 893 Ala), MDR1 (2677T, 893 Ser), MDR1 (2677A, 893 Thr)
    Related Drugs:
    dexamethasone, doxorubicin, vincristine
    Related Diseases:
    Multiple Myeloma
    Evidence:
    PMID:18408561
  29. rs2032582 at chr7:86998554 in ABCB1
    This study suggests a possible association of ABCB1 variants with SSRIs response. In a Japanese major depression sample this non-synonymous SNP showed significant association with treatment response to paroxetine.
    Related Drugs:
    paroxetine
    Related Diseases:
    Depression
    Evidence:
    PMID:17913323
  30. rs2032582 at chr7:86998554 in ABCB1
    A study of 83 patients found that patients heterozygous for this variant in ABCB1 had a significantly higher clearance of paclitaxel than most other ABCB1 variants.
    Variant Name:
    ABCB1: G2677T/A; Ala893Ser/Thr
    Related Drugs:
    paclitaxel
    Related Diseases:
    Ovarian Neoplasms
    Evidence:
    PMID:19143748
  31. rs2032582 at chr7:86998554 in ABCB1
    This variant maybe associated with drug resistance in chinese epilepsy patients. Sample size: 464 chinese epilepsy patients (270 drug responsive, 194 drug resistant).
    Variant Name:
    ABCB1: 2677T/A>G
    Related Drugs:
    carbamazepine, clobazam, clonazepam, gabapentin, lamotrigine, levetiracetam, phenobarbital, phenytoin, topiramate, valproic acid, vigabatrin
    Related Diseases:
    Epilepsy
    Evidence:
    PMID:19450124
  32. rs2032582 at chr7:86998554 in ABCB1
    This variant have been associated with response to palitaxel.
    Variant Name:
    ABCB1: 2677G>T/A
    Related Drugs:
    paclitaxel
    Evidence:
    PMID:16467099
  33. rs2032582 at chr7:86998554 in ABCB1
    Patients with epithelial ovarian cancer, with this variant, have been associated with response to taxane- and platinum-based therapy and gastrointestinal toxicity.
    Variant Name:
    ABCB1: 2677G>T/A
    Related Drugs:
    carboplatin, cisplatin, docetaxel, paclitaxel, taxanes
    Related Diseases:
    Ovarian Neoplasms
    Evidence:
    PMID:19203783
  34. rs2032582 at chr7:86998554 in ABCB1
    Patients with both rs1045642 and rs2032582 variants have been associated with neutropenia from paclitaxel.
    Variant Name:
    ABCB1: 2677G>T/A
    Related Drugs:
    paclitaxel
    Related Diseases:
    Neutropenia
    Evidence:
    PMID:16950614
  35. rs2032582 at chr7:86998554 in ABCB1
    Drug efflux and cell surface expression (by MRK-16 and C219 probes) of P-gp was not different between wild-type and variant forms (single mutants: N21D, F103L, S400N, A893S, A998T, and double mutants: 21D-S400N, N21D-A893S, and S400N-A893S) in an in vitro vaccinia virus-based transient expression system. Fluroescent substrates included calcein AM, bodipy-FL-forskolin, bodipy-FL-verapamil, bodipy-FL-vinblastine, bodipy-FL-prazosin, bisantrene, and bodipy-FL-paclitaxel. There was a slight increase in wild-type P-gp efflux of bodipy-FL-paclitaxel over mutants.
    Variant Name:
    ABCB1: c.2677G>T/A, mRNA 3095G>T/A, p.Ala893Ser/Thr
    Related Drugs:
    bisantrene, calcein, forskolin, prazosin, verapamil, vinblastine
    Evidence:
    PMID:12065748
  36. rs2032582 at chr7:86998554 in ABCB1
    Functional study of rs1045642 (3435C>T) and rs2032582 (2677G>T/A): in LLC-PK1 cells expressing wild-type (2677G/3435C) or polymorphic (2677G/3435T, 2677A/3435C, 2677A/3435T, 2677T/3435C, 2677T/3435T) constructs of ABCB1 in vitro, no significant differences were observed in transcellular efflux of structurally diverse P-gp substrates, verapamil, digoxin, vinblastine or cyclosporin A.
    Variant Name:
    ABCB1: c.2677G>T/A, mRNA 3095G>T/A, p.Ala893Ser/Thr
    Related Drugs:
    cyclosporine, digoxin, verapamil, vinblastine
    Evidence:
    PMID:12781336
  37. rs2032582 at chr7:86998554 in ABCB1
    No significant association between allelic ABCB1 variants, C3435T (rs1045642) and G2677T/A (Ala893Ser) (rs2032582), and phase 1 or phase 2 viral decay, changes in lymphocyte subsets over time, or plasma trough ritonavir concentrations among 31 HIV-infected individuals initiating antiretroviral therapy.
    Variant Name:
    ABCB1: c.2677G>T/A, mRNA 3095G>T/A, p.Ala893Ser/Thr
    Related Drugs:
    ritonavir
    Evidence:
    PMID:14600574
  38. rs2032582 at chr7:86998554 in ABCB1
    Haplotypes derived from the SNPs 2677G > T (rs2032582) and 3435C > T (rs1045642) do not influence the pharmacokinetics of tacrolimus in renal transplant patients
    Variant Name:
    ABCB1: c.2677G>T/A, mRNA 3095G>T/A, p.Ala893Ser/Thr
    Related Drugs:
    tacrolimus
    Related Diseases:
    Transplantation
    Evidence:
    PMID:15521904
  39. rs2032582 at chr7:86998554 in ABCB1
    peak blood concentration of cyclosporin A (CsA) was significantly lower in in myasthenia gravis patients harboring the 2677 T allele (893Ser); and trough CsA levels were significantly greater in 2677 TT homozygotes versus CC homozygotes
    Variant Name:
    ABCB1:2677G>T/A, mRNA 3095G>T/A, Ala893Ser/Thr
    Related Drugs:
    cyclosporine
    Related Diseases:
    Myasthenia Gravis
    Evidence:
    PMID:18717915
  40. rs2032582 at chr7:86998554 in ABCB1
    ABCB1 rs2032582 and rs1045642 genotype and peripheral blood lymphocyte efflux of P-gp substrate, rhodamine 123 (Rh123), in vitro, in healthy males: there was no significant difference in Rh123 efflux in CD56+ NK cells after 5, 10, 15, and 30 min efflux, or in CD4+ T-helper cells after 15, 30, 60, and 90 min between individuals with different genotypes. Rh123 efflux was not enhanced by a 10-day administration of P-gp inducer, rifampin, in vivo in 15 individuals before and after rifampin treatment. No genotypic effect was observed for inhibition of Rh123 efflux by P-pg inhibitor, verapamil, in vitro with CD56+ and CD4+.
    Variant Name:
    ABCB1:2677G>T/A, mRNA 3095G>T/A, Ala893Ser/Thr
    Related Drugs:
    rhodamine 123, rifampin, verapamil
    Evidence:
    PMID:12914549
  41. rs2032582 at chr7:86998554 in ABCB1
    Risk or phenotype-associated allele: 2677 T (893Ser) and A (893Thr) alleles. Phenotype: Carriers of 3435 CT and TT genotypes (63%) and 2677 non-GG (non 893Ala/Ala) genotypes (64%) had higher frequency of family history of coronary artery disease (CAD) than the 3435CC (44%, p = 0.042) and 2677GG (46%, p = 0.043) carriers. The frequency of CAD in those carrying the 3435/2677 T/T haplotype (67%) was higher than that found in 3435/2677 non-T/T individuals (47%, p = 0.021). Reduction in ABCB1 expression in peripheral blood mononuclear cells was associated with 2677 T and A alleles (p = 0.039). ABCC1 mRNA expression was reduced 50% in response to atorvastatin (p < 0.05), and correlated with 2677 T (893Ser) allele carriers versus 2677 GG (893Ala/Ala) homozygotes (p = 0.04). Increased response to atorvastatin was found in 2677A allele carriers (OR = 5.69, 95% CI = 1.28-25.24, p = 0.022). ABCB1 substrates (antiarrhythmics, beta-blockers, diuretics, ACE inhibitors, and others) or inhibitors (antiarrhythmics, calcium antagonists, calcium channel blockers, antidepressants and others) did not affect the baseline ABCB1 expression, but ABCB1 inhibitors reversed the effects of atorvastatin on both ABCB1 and ABCC1 transporters. Study size: 136. Study population/ethnicity: Hypercholesterolemic individuals, treated with atorvastatin (10mg/day/4 weeks), evaluated for CAD risk factors at the Institute Dante Pazzanese of Cardiology and the Hospital of the Sao Paulo University in Sao Paulo City, Brazil. Significance metric(s): p < 0.05. Type of association: GN; PD; FA
    Variant Name:
    ABCB1:2677G>T/A, 3095G>T/A, Ala893Ser/Thr
    Related Drugs:
    atorvastatin
    Related Diseases:
    Coronary Artery Disease, Hypercholesterolemia
    Evidence:
    PMID:18851956
  42. rs2032582 at chr7:86998554 in ABCB1
    Clinical outcome and P-gp activity was studied in Asian patients with de novo acute myeloid leukemia taking cytarabine and idarubicin, relative to ABCB1 genotypes, C3435T (rs1045642) and G2677T/A (rs2032582, Ala893Ser/Thr). Three-year event-free survival (EFS) was higher in 2677 GG homozygotes (893Ala/Ala) (60.6%) versus non-GG genotypes (893Ser allele-harboring subjects) (21.9%; p = 0.02), and in 3435 CC homozygotes versus non-CC genotypes (p = 0.01), and for 2677GG (893Ala/Ala)/3435CC diplotypes (58.2%) versus other diplotypes (22.6%; p = 0.04); although no significant genotypic or haplotypic association was observed for overall survival (OS). The rate of complete remission was significantly higher in 3435 CC (p = 0.05) and 2677 GG (893Ala/Ala) (p = 0.04) homozygotes, and for the 3435CC/2677GG diplotype (p = 0.03) compared to non-GC haplotype homozygotes. Using an in vitro daunorubicin accumulation assay with leukemic mononuclear cells from AML patients, 3435 CC homozygotes showed significantly lower P-gp activity (7.5%) than for CT (10.7%) and TT (19.9%) genotypes (p = 0.029); and G2677T/A (Ala893Ser/Thr) genotype had no effect (p = 0.181).
    Variant Name:
    ABCB1:2677G>T/A, mRNA 3095G>T/A, p.Ala893Ser/Thr
    Related Drugs:
    cytarabine, idarubicin
    Related Diseases:
    Leukemia, Myeloid, Acute
    Evidence:
    PMID:16331627
  43. rs2032582 at chr7:86998554 in ABCB1
    Risk or phenotype-associated allele: none. Phenotype: There was no significant association between systemic exposure of tipifarnib (AUC levels) and rs2032582 genotype. Study size: 28 (16 male). Study population/ethnicity: Caucasian cancer patients, aged 34-75. Significance metric(s): Not significant, p = 0.92. Type of association: GN; PK
    Variant Name:
    ABCB1: c.2677G>T/A, mRNA 3095G>T/A, p.Ala893Ser/Thr; ABCB1*7
    Related Drugs:
    Tipifarnib
    Evidence:
    PMID:15122075
  44. rs2032582 at chr7:86998554 in ABCB1
    Functional study of rs1045642 (3435C>T) and rs1128503 (2677G>T/A): in LLC-PK1 cells expressing wild-type (2677G/3435C) or polymorphic (2677G/3435T, 2677A/3435C, 2677A/3435T, 2677T/3435C, 2677T/3435T) constructs of ABCB1 in vitro, no significant differences were observed in transcellular efflux of structurally diverse P-gp substrates, verapamil, digoxin, vinblastine or cyclosporin A.
    Variant Name:
    ABCB1: c.2677G>T/A, mRNA 3095G>T/A, p.Ala893Ser/Thr
    Related Drugs:
    cyclosporine, digoxin, verapamil, vinblastine
    Evidence:
    PMID:12781336
  45. rs4148739 at chr7:86998985 in ABCB1
    This variant is associated with differences in clinical efficacy of antidepressants, most likely by influencing their access to the brain.
    Related Drugs:
    amitriptyline, citalopram, paroxetine, venlafaxine
    Related Diseases:
    Depression
    Evidence:
    PMID:18215618
  46. rs11983225 at chr7:86999456 in ABCB1
    This variant is associated with differences in clinical efficacy of antidepressants, most likely by influencing their access to the brain.
    Related Drugs:
    amitriptyline, citalopram, paroxetine, venlafaxine
    Related Diseases:
    Depression
    Evidence:
    PMID:18215618
  47. rs10248420 at chr7:87002922 in ABCB1
    This variant is associated with differences in clinical efficacy of antidepressants, most likely by influencing their access to the brain.
    Related Drugs:
    amitriptyline, citalopram, paroxetine, venlafaxine
    Related Diseases:
    Depression
    Evidence:
    PMID:18215618
  48. rs2235040 at chr7:87003686 in ABCB1
    This variant is associated with differences in clinical efficacy of antidepressants, most likely by influencing their access to the brain.
    Related Drugs:
    amitriptyline, citalopram, paroxetine, venlafaxine
    Related Diseases:
    Depression
    Evidence:
    PMID:18215618
  49. rs12720067 at chr7:87007292 in ABCB1
    This variant is associated with differences in clinical efficacy of antidepressants, most likely by influencing their access to the brain.
    Related Drugs:
    amitriptyline, citalopram, paroxetine, venlafaxine
    Related Diseases:
    Depression
    Evidence:
    PMID:18215618
  50. rs1128503 at chr7:87017537 in ABCB1
    peak blood concentration of cyclosporin A (CsA) was significantly lower in myasthenia gravis patients harboring the 1236 T allele; and trough CsA levels were significantly greater in 1236 TT homozygotes versus CC homozygotes
    Variant Name:
    ABCB1:1236T>C, mRNA 1654T>C, Gly412Gly
    Related Drugs:
    cyclosporine
    Related Diseases:
    Myasthenia Gravis
    Evidence:
    PMID:18717915
  51. rs1128503 at chr7:87017537 in ABCB1
    Risk or phenotype-associated allele: None. Phenotype: Efflux of P-glycoprotein substrates (verapamil; digoxin; vinblastine; cyclosporin A) in vitro were not significantly affected by combined mutations for rs1128503 (2677G>T/A) and rs1045642 (3435C>T) in LLC-PK1 cell lines. Study size: Triplicate cell assays. Study population/ethnicity: N/A. Significance metric(s): Not significant, p > 0.05. Type of association: FA
    Variant Name:
    ABCB1:2677G>T/A, mRNA 3095G>T/A, Ala893Ser/Thr
    Related Drugs:
    cyclosporine, digoxin, verapamil, vinblastine
    Evidence:
    PMID:12781336
  52. rs1128503 at chr7:87017537 in ABCB1
    Risk or phenotype-associated allele: rs1128503 TT genotype. Phenotype: Systemic exposure of tipifarnib, based on plasma AUC levels, were 46.5% higher for patients homozygous for ABCB1*8 (3435TT) compared to the CT and CC genotypes. Study size: 28 (16 male). Study population/ethnicity: Caucasian cancer patients, aged 34-75. Significance metric(s): p = 0.047. Type of association: GN; PK
    Variant Name:
    ABCB1: c.1236T>C, mRNA 1654T>C, p.Gly412Gly; ABCB1*8
    Related Drugs:
    Tipifarnib
    Evidence:
    PMID:15122075
  53. rs1128503 at chr7:87017537 in ABCB1
    Risk or phenotype-associated allele: T Phenotype: Carriers of the T variant of ABCB1:1236C>T had lower Autism Treatment Evaluation Checklist (ATEC) scores, indicating improved symptoms and response to risperidone, than CC homozygotes. Study size: 45 Study population/ethnicity: Children with Autism receiving risperidone Significance metric(s): p = 0.002 Type of association: PD
    Variant Name:
    ABCB1 1236C>T, ABCB1:1236C>T
    Related Drugs:
    risperidone
    Related Diseases:
    Autistic Disorder
    Evidence:
    PMID:19997080
  54. rs2229109 at chr7:87017745 in ABCB1
    Drug efflux and cell surface expression (by MRK-16 and C219 probes) of P-gp was not different between wild-type and variant forms (single mutants: N21D, F103L, S400N, A893S, A998T, and double mutants: 21D-S400N, N21D-A893S, and S400N-A893S) in an in vitro vaccinia virus-based transient expression system. Fluroescent substrates included calcein AM, bodipy-FL-forskolin, bodipy-FL-verapamil, bodipy-FL-vinblastine, bodipy-FL-prazosin, bisantrene, and bodipy-FL-paclitaxel. There was a slight increase in wild-type P-gp efflux of bodipy-FL-paclitaxel over mutants.
    Variant Name:
    ABCB1: c.1199G>A, mRNA 1617G>A, p.Ser400Asn
    Related Drugs:
    bisantrene, calcein, forskolin, prazosin, verapamil, vinblastine
    Evidence:
    PMID:12065748
  55. rs2235015 at chr7:87037500 in ABCB1
    This variant is associated with differences in clinical efficacy of antidepressants, most likely by influencing their access to the brain.
    Related Drugs:
    amitriptyline, citalopram, paroxetine, venlafaxine
    Related Diseases:
    Depression
    Evidence:
    PMID:18215618
  56. rs3789243 at chr7:87058822 in ABCB1
    This variant maybe associated with drug resistance in chinese epilepsy patients. Sample size: 464 chinese epilepsy patients (270 drug responsive, 194 drug resistant).
    Related Drugs:
    carbamazepine, clobazam, clonazepam, gabapentin, lamotrigine, levetiracetam, phenobarbital, phenytoin, topiramate, valproic acid, vigabatrin
    Related Diseases:
    Epilepsy
    Evidence:
    PMID:19450124
  57. rs9282564 at chr7:87067376 in ABCB1
    Drug efflux and cell surface expression (by MRK-16 and C219 probes) of P-gp was not different between wild-type and variant forms (single mutants: N21D, F103L, S400N, A893S, A998T, and double mutants: 21D-S400N, N21D-A893S, and S400N-A893S) in an in vitro vaccinia virus-based transient expression system. Fluroescent substrates included calcein AM, bodipy-FL-forskolin, bodipy-FL-verapamil, bodipy-FL-vinblastine, bodipy-FL-prazosin, bisantrene, and bodipy-FL-paclitaxel. There was a slight increase in wild-type P-gp efflux of bodipy-FL-paclitaxel over mutants.
    Variant Name:
    ABCB1: c.61A>G, mRNA 479A>G, p.Asn21Asp
    Related Drugs:
    bisantrene, calcein, forskolin, prazosin, verapamil, vinblastine
    Evidence:
    PMID:12065748
  58. rs3213619 at chr7:87068129 in ABCB1
    This variant is in exon 1b of ABCB1 and may be associated with tacrolimus pharmacokinetics in renal transplant recipients. It was also associated with lower ABCB1 mRNA expression and possibly being an useful invasive marker predicting poorly-differentiated colorectal adenocarcinomas and thereby the poor prognosis of the Japanese patients in the study.
    Variant Name:
    ABCB1:T-129C
    Evidence:
    PMID:16819187
    PMID:16906020
    PMID:17548681
    PMID:17635180
    PMID:19285054

Non-Curated Annotations (Non-Curated Annotation)

  1. rs28364274 at chr7:86971587 in ABCB1
    (i) Decreased intracellular calcein levels (increased function), (ii) increased intracellular BODIPy-FL- paclitaxel levels (decreased function), in transfected cells
    Variant Name:
    ABCB1: V1251I
    Related Drugs:
    calcein, paclitaxel
    Evidence:
    PMID:19940846
  2. rs2229107 at chr7:86976595 in ABCB1
    Increased resistance to daunorubicin, doxorubicin, valinomycin, or actinomycin D in transformed yeast
    Variant Name:
    ABCB: S1141T
    Related Drugs:
    Actinomycines, daunorubicin, doxorubicin, valinomycin
    Evidence:
    PMID:19940846
  3. rs35730308 at chr7:86976694 in ABCB1
    Decreased resistance to daunorubicin, doxorubicin, valinomycin, or actinomycin D in transformed yeast
    Variant Name:
    ABCB1: W1108R
    Related Drugs:
    Actinomycines, daunorubicin, doxorubicin, valinomycin
    Evidence:
    PMID:19940846
  4. rs2032582 at chr7:86998554 in ABCB1
    Decreased intracellular calcein levels (increased function) in transfected cells
    Variant Name:
    ABCB1:A893T
    Related Drugs:
    calcein
    Evidence:
    PMID:19940846
  5. rs2032582 at chr7:86998554 in ABCB1
    Increased intracellular BODIPy-FL- paclitaxel levels (decreased function) in transfected cells
    Variant Name:
    ABCB1: A893S
    Related Drugs:
    paclitaxel
    Evidence:
    PMID:19940846
  6. rs35023033 at chr7:87012134 in ABCB1
    Increased resistance to daunorubicin, doxorubicin, valinomycin, or actinomycin D in transformed yeast
    Variant Name:
    ABCB1: R669C
    Related Drugs:
    Actinomycines, daunorubicin, doxorubicin, valinomycin
    Evidence:
    PMID:19940846
  7. rs10276036 at chr7:87018134 in ABCB1
    The AUCs of irinotecan, SN-38, SN-38 glucuronide, and APC are influenced by rs3740066, rs2306283, rs35605, rs10276036, and rs717620 .
    Variant Name:
    ABCB1: IVS9 ¿44a>G
    Related Drugs:
    irinotecan, SN-38
    Evidence:
    PMID:19940846
  8. rs35810889 at chr7:87052784 in ABCB1
    Increased resistance to daunorubicin, doxorubicin, valinomycin, or actinomycin D in transformed yeast
    Variant Name:
    ABCB1: M89T
    Related Drugs:
    Actinomycines, daunorubicin, doxorubicin, valinomycin
    Evidence:
    PMID:19940846
Variant names are different names that have been used in the literature and other resources to refer to the same variant. Non-curated variant information is accumulated solely by computational methods and has not been verified by the scientific staff at PharmGKB.

Curated Information

The following genes are in curated knowledge about this gene.

  Gene Relationship Evidence
Phenotype data available Genotype Data Available Literature annotations available Not annotated
NR1I2
  •   
  •   
  • PK
  • FA
  •   
Publications
No phenotype data Genotype Data Available Literature annotations available Not annotated
NR1I3
  •   
  •   
  • PK
  • FA
  •   
Publications

Non-Curated Information

A list of non-curated publications that mention this gene along with other genes is available.

Curated Information

The following drugs are in curated knowledge about this gene.

  Drug Class Relationship Evidence
No phenotype data No genotype data Literature annotations available Not annotated
antidepressants
  •   
  • PD
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
antineoplastic agents
  •   
  • PD
  • PK
  •   
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
antithrombotic agents
  •   
  •   
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
calcium channel blockers
  • CO
  •   
  • PK
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
farnesyltransferase inhibitors
  •   
  •   
  • PK
  •   
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
hmg coa reductase inhibitors
  • CO
  •   
  • PK
  •   
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
non-nucleoside reverse transcriptase inhibitors
  •   
  • PD
  • PK
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
nucleosides and nucleotides excl. reverse transcriptase inhibitors
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
opioids
  •   
  •   
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
pesticides
  •   
  • PD
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
protease inhibitors
  •   
  • PD
  • PK
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
taxanes
  •   
  •   
  •   
  •   
  •   
Variants
No phenotype data No genotype data Literature annotations available Not annotated
vinca alkaloids and analogues
  •   
  •   
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
vitamin d and analogues
  •   
  •   
  • PK
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
xenobiotics
  •   
  •   
  • PK
  • FA
  • GN
Publications
  Drug Relationship Evidence
No phenotype data No genotype data Literature annotations available Not annotated
acetaminophen
  •   
  • PD
  • PK
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
aldosterone
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
alitretinoin
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
amiodarone
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
amitriptyline
  •   
  •   
  •   
  • FA
  •   
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
amlodipine
  •   
  •   
  • PK
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
amprenavir
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
arsenic trioxide
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
arsenite
  •   
  • PD
  •   
  •   
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
asparaginase
  • CO
  • PD
  • PK
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
astemizole
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
atazanavir
  •   
  •   
  • PK
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
atorvastatin
  •   
  • PD
  • PK
  • FA
  • GN
Publications, Pathways, Variants
Phenotype data available Genotype Data Available Literature annotations available Not annotated
azathioprine
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
bepridil
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Biricodar
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data No literature annotations Not annotated
bisantrene
  •   
  •   
  •   
  •   
  •   
Variants
No phenotype data No genotype data Literature annotations available Not annotated
bromocriptine
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
budesonide
  •   
  •   
  • PK
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
calcein
  •   
  •   
  •   
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
carbamazepine
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Variants
Phenotype data available No genotype data Literature annotations available Not annotated
carboplatin
  • CO
  • PD
  • PK
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
carvedilol
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Celiprolol
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
cerivastatin
  •   
  • PD
  • PK
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
chlorambucil
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
chlorpromazine
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
cimetidine
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
cisplatin
  •   
  •   
  •   
  • FA
  •   
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
citalopram
  •   
  •   
  • PK
  •   
  • GN
Publications, Pathways, Variants
No phenotype data No genotype data Literature annotations available Not annotated
clarithromycin
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
clobazam
  •   
  •   
  •   
  •   
  •   
Variants
No phenotype data No genotype data Literature annotations available Not annotated
clonazepam
  •   
  •   
  •   
  •   
  •   
Variants
No phenotype data No genotype data Literature annotations available Not annotated
clopidogrel
  •   
  •   
  • PK
  • FA
  • GN
Publications, Pathways, Variants
No phenotype data No genotype data Literature annotations available Not annotated
clotrimazole
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
clozapine
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
codeine
  •   
  •   
  • PK
  •   
  •   
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
colchicine
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
cyanocobalamin
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
cyclophosphamide
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
cyclosporine
  •   
  • PD
  • PK
  • FA
  • GN
Publications, Variants
Phenotype data available Genotype Data Available Literature annotations available Not annotated
cytarabine
  • CO
  • PD
  • PK
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
dactinomycin
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data No literature annotations Not annotated
dasatinib
  •   
  • PD
  • PK
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
daunorubicin
  • CO
  • PD
  • PK
  • FA
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
dexamethasone
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways, Variants
No phenotype data No genotype data Literature annotations available Not annotated
digoxin
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
diltiazem
  •   
  • PD
  • PK
  • FA
  •   
Publications
No phenotype data No genotype data No literature annotations Not annotated
dimethyl sulfoxide
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
dipyridamole
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
disulfiram
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
docetaxel
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways, Variants
No phenotype data No genotype data Literature annotations available Not annotated
domperidone
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
doxorubicin
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways, Variants
No phenotype data No genotype data Literature annotations available Not annotated
doxycycline
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
efavirenz
  •   
  •   
  • PK
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
Elacridar
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
epirubicin
  • CO
  •   
  •   
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
erlotinib
  •   
  •   
  • PK
  • FA
  • GN
Publications, Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
erythromycin
  •   
  • PD
  • PK
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
escitalopram
  •   
  •   
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
esomeprazole
  •   
  •   
  • PK
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
etoposide
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
ezetimibe
  •   
  •   
  • PK
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
felodipine
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
fentanyl
  •   
  • PD
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
fexofenadine
  •   
  •   
  • PK
  • FA
  •   
Publications, Variants
Phenotype data available Genotype Data Available Literature annotations available Not annotated
fluconazole
  •   
  •   
  • PK
  • FA
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
fluorouracil
  • CO
  • PD
  •   
  • FA
  • GN
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
fluoxetine
  •   
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
fluvastatin
  •   
  • PD
  • PK
  •   
  •   
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
folic acid
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
forskolin
  •   
  •   
  •   
  •   
  •   
Variants
No phenotype data No genotype data Literature annotations available Not annotated
gabapentin
  •   
  •   
  • PK
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
gefitinib
  •   
  • PD
  • PK
  • FA
  • GN
Publications, Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
gemcitabine
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
gemfibrozil
  •   
  • PD
  • PK
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
granisetron
  •   
  • PD
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
grapefruit juice
  •   
  •   
  • PK
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
heroin
  •   
  • PD
  • PK
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
hydrocortisone
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
hydroxyurea
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
ibutilide
  •   
  •   
  • PK
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
idarubicin
  •   
  •   
  •   
  •   
  •   
Variants
No phenotype data No genotype data Literature annotations available Not annotated
imatinib
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
indinavir
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
insulin glargine recombinant
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
insulin lyspro recombinant
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
insulin recombinant
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
insulin, porcine
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
insulin-aspart
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
insulin-detemir
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
insulin-glargine
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
insulin-glulisine
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
insulin-lispro
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
irinotecan
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
itraconazole
  •   
  • PD
  • PK
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
ivermectin
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
ketoconazole
  •   
  •   
  • PK
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
lamotrigine
  •   
  •   
  • PK
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
lansoprazole
  •   
  • PD
  • PK
  •   
  •   
Publications, Pathways, Variants
Phenotype data available No genotype data Literature annotations available Not annotated
leucovorin
  • CO
  • PD
  • PK
  •   
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
levetiracetam
  •   
  •   
  • PK
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
levofloxacin
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
loperamide
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
lopinavir
  •   
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
losartan
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
lovastatin
  •   
  • PD
  • PK
  •   
  •   
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
mefloquine
  •   
  • PD
  •   
  •   
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
mercaptopurine
  • CO
  • PD
  • PK
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
methadone
  •   
  • PD
  • PK
  •   
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
methotrexate
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways, Variants
No phenotype data No genotype data Literature annotations available Not annotated
methylprednisolone
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
midazolam
  •   
  •   
  • PK
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
mitomycin
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
mitoxantrone
  • CO
  •   
  •   
  • FA
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
morphine
  •   
  • PD
  • PK
  • FA
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
nelfinavir
  •   
  •   
  • PK
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
nevirapine
  • CO
  •   
  • PK
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
nicardipine
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
nifedipine
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
nitrendipine
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
nortriptyline
  •   
  • PD
  •   
  •   
  •   
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
OC144-093
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
olanzapine
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
omeprazole
  •   
  •   
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
ondansetron
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
oseltamivir
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
oxycodone
  •   
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
paclitaxel
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways, Variants
No phenotype data No genotype data Literature annotations available Not annotated
pantoprazole
  •   
  •   
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
paroxetine
  •   
  •   
  •   
  • FA
  •   
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
pentazocine
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
phenobarbital
  •   
  •   
  • PK
  • FA
  • GN
Publications, Variants
Phenotype data available Genotype Data Available Literature annotations available Not annotated
phenytoin
  • CO
  •   
  • PK
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
pitavastatin
  •   
  • PD
  • PK
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
pravastatin
  •   
  • PD
  • PK
  •   
  •   
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
prazosin
  •   
  •   
  •   
  •   
  •   
Variants
Phenotype data available Genotype Data Available Literature annotations available Not annotated
prednisone
  • CO
  • PD
  • PK
  •   
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
probenecid
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
progesterone
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
promazine
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
propafenone
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
pyridoxine
  •   
  • PD
  • PK
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
quinidine
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
quinine
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
R101933
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
rabeprazole
  •   
  •   
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
ranitidine
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
reserpine
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data No literature annotations Not annotated
rhodamine 123
  •   
  •   
  •   
  •   
  •   
Variants
Phenotype data available Genotype Data Available Literature annotations available Not annotated
rifampin
  •   
  • PD
  • PK
  • FA
  • GN
Publications, Pathways, Variants
No phenotype data No genotype data Literature annotations available Not annotated
risperidone
  • CO
  • PD
  • PK
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
ritonavir
  •   
  • PD
  • PK
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
rosuvastatin
  •   
  • PD
  • PK
  •   
  •   
Publications, Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
saquinavir
  •   
  •   
  • PK
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
sertraline
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
simvastatin
  • CO
  • PD
  • PK
  •   
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
sirolimus
  •   
  •   
  • PK
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
SJG-136
  •   
  •   
  • PK
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
sparfloxacin
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
st. john's wort
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
tacrolimus
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
talinolol
  •   
  • PD
  • PK
  • FA
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
tamoxifen
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
teniposide
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
terfenadine
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
testosterone
  •   
  •   
  •   
  •   
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
tetrabenazine
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
tetracycline
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
thioguanine
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Tipifarnib
  •   
  •   
  • PK
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
topiramate
  •   
  •   
  •   
  •   
  •   
Variants
No phenotype data No genotype data Literature annotations available Not annotated
topotecan
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
tretinoin
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
valinomycin
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
valproic acid
  •   
  •   
  • PK
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
Valspodar
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
vecuronium
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
venlafaxine
  •   
  •   
  •   
  •   
  •   
Variants
No phenotype data No genotype data Literature annotations available Not annotated
verapamil
  •   
  • PD
  • PK
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
vigabatrin
  •   
  •   
  •   
  •   
  •   
Variants
No phenotype data No genotype data Literature annotations available Not annotated
vinblastine
  •   
  •   
  • PK
  • FA
  • GN
Publications, Pathways, Variants
Phenotype data available Genotype Data Available Literature annotations available Not annotated
vincristine
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways, Variants
No phenotype data No genotype data No literature annotations Not annotated
vindesine
  •   
  •   
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
vinorelbine
  •   
  •   
  • PK
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
warfarin
  • CO
  •   
  • PK
  •   
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
XR9051
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
yohimbine
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Zosuquidar
  •   
  •   
  •   
  • FA
  •   
Publications

Non-Curated Information

A list of non-curated publications that mention this gene along with other drugs is available.

Curated Information

The following diseases are in curated knowledge about this gene.

  Disease Relationship Evidence
No phenotype data No genotype data Literature annotations available Not annotated
Adenocarcinoma
  •   
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Anemia, Sickle Cell
  •   
  • PD
  • PK
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Arrhythmias, Cardiac
  • CO
  • PD
  • PK
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Arthritis, Rheumatoid
  • CO
  • PD
  • PK
  •   
  • GN
Publications, Pathways, Variants
Phenotype data available Genotype Data Available Literature annotations available Not annotated
Atrial Fibrillation
  •   
  •   
  • PK
  •   
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
Autism Spectrum Disorder
  •   
  • PD
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Autistic Disorder
  •   
  •   
  •   
  •   
  •   
Variants
No phenotype data No genotype data No literature annotations Not annotated
Barrett Esophagus
  •   
  •   
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
Bipolar Disorder
  •   
  •   
  • PK
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Blood Coagulation Disorders
  • CO
  •   
  •   
  •   
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
Brain Neoplasms
  •   
  • PD
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
Breast Neoplasms
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways, Variants
No phenotype data No genotype data Literature annotations available Not annotated
Carcinoma, Non-Small-Cell Lung
  • CO
  • PD
  • PK
  •   
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
Carcinoma, Renal Cell
  •   
  •   
  •   
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Cardiomyopathy, Dilated
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
Cardiomyopathy, Hypertrophic
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data No literature annotations Not annotated
Cardiomyopathy, Restrictive
  •   
  • PD
  • PK
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
Cardiovascular Diseases
  •   
  •   
  • PK
  •   
  •   
Pathways, Variants
No phenotype data No genotype data Literature annotations available Not annotated
Carotid Artery Diseases
  •   
  • PD
  • PK
  •   
  •   
Publications
No phenotype data No genotype data No literature annotations Not annotated
Chagas Cardiomyopathy
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
Colitis, Ulcerative
  • CO
  •   
  •   
  •   
  • GN
Publications, Variants
Phenotype data available Genotype Data Available Literature annotations available Not annotated
Colonic Neoplasms
  •   
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Colorectal Neoplasms
  • CO
  •   
  •   
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Coronary Artery Disease
  •   
  • PD
  • PK
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
Crohn Disease
  • CO
  •   
  •   
  •   
  • GN
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
Depression
  • CO
  • PD
  • PK
  •   
  • GN
Publications, Pathways, Variants
No phenotype data No genotype data Literature annotations available Not annotated
Depressive Disorder
  •   
  •   
  •   
  •   
  •   
Variants
No phenotype data No genotype data Literature annotations available Not annotated
Depressive Disorder, Major
  •   
  • PD
  •   
  •   
  •   
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
Diarrhea
  •   
  •   
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
Drug Resistance
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Drug Toxicity
  • CO
  •   
  •   
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
Duodenal Ulcer
  •   
  •   
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
Epilepsy
  • CO
  •   
  • PK
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
Gastroesophageal Reflux
  •   
  •   
  • PK
  •   
  •   
Pathways, Variants
No phenotype data No genotype data Literature annotations available Not annotated
Gastrointestinal Stromal Tumors
  •   
  • PD
  • PK
  •   
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
Gingival Hyperplasia
  • CO
  •   
  • PK
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Head and Neck Neoplasms
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Heart Diseases
  •   
  •   
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
Heart Failure
  • CO
  • PD
  • PK
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Hemorrhage
  •   
  •   
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
HIV
  • CO
  •   
  • PK
  •   
  • GN
Publications, Variants
Phenotype data available Genotype Data Available Literature annotations available Not annotated
HIV Infections
  • CO
  • PD
  • PK
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
Hodgkin Disease
  •   
  •   
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
Hypercholesterolemia
  •   
  • PD
  • PK
  • FA
  • GN
Publications, Pathways, Variants
No phenotype data No genotype data Literature annotations available Not annotated
Hyperlipidemias
  • CO
  •   
  • PK
  •   
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
Hyperlipoproteinemia Type II
  •   
  •   
  • PK
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
Hypertension
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Hypotension
  •   
  •   
  •   
  •   
  •   
Variants
No phenotype data No genotype data No literature annotations Not annotated
Hypotension, Orthostatic
  •   
  •   
  •   
  •   
  •   
Variants
No phenotype data No genotype data Literature annotations available Not annotated
Hypoxia-Ischemia, Brain
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Inflammatory Bowel Diseases
  •   
  •   
  • PK
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Influenza, Human
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Kidney Neoplasms
  •   
  •   
  •   
  •   
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
Leukemia
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Leukemia, Myelogenous, Chronic, BCR-ABL Positive
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
Leukemia, Myeloid
  •   
  •   
  • PK
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Leukemia, Myeloid, Acute
  • CO
  •   
  • PK
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
liver transplantation
  • CO
  •   
  • PK
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
Lung Neoplasms
  •   
  • PD
  • PK
  • FA
  •   
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
Lymphoma
  •   
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Lymphoma, Non-Hodgkin
  •   
  •   
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
Malaria
  •   
  • PD
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Melanoma
  •   
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Multiple Myeloma
  • CO
  •   
  • PK
  •   
  • GN
Publications, Pathways, Variants
No phenotype data No genotype data Literature annotations available Not annotated
Muscular Diseases
  •   
  •   
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
Myalgia unspecified
  •   
  •   
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data No literature annotations Not annotated
Myasthenia Gravis
  •   
  •   
  •   
  •   
  •   
Variants
Phenotype data available Genotype Data Available Literature annotations available Not annotated
Myocardial Infarction
  • CO
  •   
  • PK
  •   
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
Myositis
  •   
  •   
  • PK
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
Neoplasms
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
Neurotoxicity Syndromes
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Neutropenia
  • CO
  • PD
  • PK
  •   
  • GN
Publications, Pathways, Variants
No phenotype data No genotype data Literature annotations available Not annotated
Opioid-Related Disorders
  •   
  • PD
  • PK
  •   
  • GN
Publications, Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
Organ Transplantation
  • CO
  •   
  • PK
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Osteosarcoma
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Ovarian Neoplasms
  •   
  • PD
  • PK
  • FA
  • GN
Publications, Pathways, Variants
No phenotype data No genotype data Literature annotations available Not annotated
Pain
  •   
  • PD
  • PK
  •   
  • GN
Publications, Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
Parkinson Disease
  •   
  • PD
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Peripheral Nervous System Diseases
  • CO
  •   
  • PK
  •   
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
Precursor Cell Lymphoblastic Leukemia-Lymphoma
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
Prostatic Neoplasms
  •   
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Psychotic Disorders
  • CO
  •   
  •   
  •   
  • GN
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
Pulmonary Embolism
  •   
  •   
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
Rhabdomyolysis
  •   
  • PD
  • PK
  •   
  •   
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
Schizophrenia
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data No literature annotations Not annotated
Stomach Ulcer
  •   
  •   
  • PK
  •   
  •   
Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
Stroke
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Thrombosis
  •   
  •   
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
Transplantation
  • CO
  •   
  • PK
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
Vascular Diseases
  •   
  •   
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
venous thromboembolism
  •   
  •   
  • PK
  •   
  •   
Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
Venous Thrombosis
  •   
  •   
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
Vomiting
  •   
  • PD
  •   
  •   
  • GN
Publications
No phenotype data No genotype data No literature annotations Not annotated
Zollinger-Ellison Syndrome
  •   
  •   
  • PK
  •   
  •   
Pathways

Non-Curated Information

A list of non-curated publications that mention this gene along with other diseases is available.

Curated Phenotype Datasets

These datasets are sorted alphabetically by title.

Additional Datasets

These datasets are minimally curated and are sorted alphabetically by title.

  1. A Comparison of the Pharmacokinetics and Pharmacodynamics of Docetaxel between African-American and Caucasian Cancer Patients: CALGB 9871
  2. ABCB1 Cellular Phenotype Results for 3 Variant Sites (+89A>T, +146G>A and +193A>G)
  3. ABCB1 Cellular Phenotype Results for 9 Variant Sites (N21D, S400T, R669C,?)
  4. Drug resistance of nine ABCB1 polymorphisms
  5. Functional SNPs in ABCB1 Polymorphisms
  6. Genetic Variants in Non-nucleoside Reverse Transcriptase Inhibitor (NNRTI) associated Adverse Effects and Response to Therapy
  7. Genetic Variants in Selective Serotonin Reuptake Inhibitors (SSRIs) associated Adverse Events
  8. Genetic Variants in Tricyclic Antidepressant associated Adverse Events
  9. Pharmacogenetics of Minimal Residual Disease Response in Children with B-Precursor Acute Lymphoblastic Leukemia (ALL): A Report from the Children's Oncology Group
  10. PMT06_044.xml
  11. Resistance Levels of Nine ABCB1 Variants to Four Drugs

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LinkOuts

Common Searches

Non-Curated Publications

A list of non-curated publications that mention this gene is available.

The PharmGKB is financially supported by the NIH/ NIGMS and is managed at Stanford University (U01GM61374).
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