Disease:
Neoplasms

Overview

Alternate Names: Benign Neoplasm; Benign Neoplasms; Cancer; Cancers; Neoplasm; Neoplasm, Benign; Neoplasms NOS; Neoplasms, Benign; Tumor; Tumors; Tumour
PharmGKB Accession Id: PA445062
External Vocabularies
  • MeSH: D009369 - Neoplasms
  • SnoMed Clinical Terminology: 108369006 - Neoplasm
  • SnoMed Clinical Terminology: 189525008 - Unspecified nature neoplasm
  • SnoMed Clinical Terminology: 189526009 - Neoplasm of unspecified nature
  • SnoMed Clinical Terminology: 189541009 - Neoplasm of unspecified nature NOS
  • SnoMed Clinical Terminology: 190230000 - Neoplasms NOS
  • Unified Medical Language System: C0027651 - C0027651

In-Depth Annotations (In-Depth Annotation)

  1. rs12721627 at chr7:99204029 in CYP3A, CYP3A4
    Part of CYP3A4*16B haplotype that has been shown to alter paclitaxel metabolite levels in Japanese(Asian) cancer patients; defining polymorphism for CYP3A4*16A.
    Variant Name:
    CYP3A4:T185S; CYP3A4:658 C>G; CYP3A4:185 Thr>Ser; CYP3A4*16A
    Related Drugs:
    paclitaxel
    Related Diseases:
    Neoplasms
    Evidence:
    http://www.pharmgkb.org/.../variant.jsp
  2. rs2228570 at chr12:46559162 in VDR
    Shortens protein by three amino acids; some association with cancer risk.
    Variant Name:
    VDR:FokI
    Related Diseases:
    Neoplasms
    Evidence:
    http://www.pharmgkb.org/.../variant.jsp
  3. rs59421388 at chr22:40853554 in CYP2D6
    This variant is part of the reduced functioning haplotype CYP2D6*29, which is found at an estimated allele frequency of 20% in African Tanzanians.
    Variant Name:
    CYP2D6: 3183G>A; 3271G>A
    Related Drugs:
    citalopram, codeine, desipramine, fluoxetine, fluvoxamine, gefitinib, haloperidol, imipramine, morphine, tramadol
    Related Diseases:
    Cystic Fibrosis, Depression, Hypertension, Neoplasms, Pain, Parkinson Disease, Schizophrenia
    Evidence:
    http://www.pharmgkb.org/.../variant.jsp
  4. rs61736512 at chr22:40855078 in CYP2D6
    This variant is part of the reduced functioning haplotype CYP2D6*29, which is found at an estimated allele frequency of 20% in African Tanzanians.
    Variant Name:
    CYP2D6: 1659G>A; 1747G>A
    Related Drugs:
    citalopram, codeine, desipramine, fluoxetine, fluvoxamine, gefitinib, haloperidol, imipramine, morphine, tramadol
    Related Diseases:
    Cystic Fibrosis, Depression, Hypertension, Neoplasms, Pain, Parkinson Disease, Schizophrenia
    Evidence:
    http://www.pharmgkb.org/.../variant.jsp

Curated Annotations (Curated Annotation)

  1. rs8175347 at chr2:234333620 in UGT1A1, UGT1A10, UGT1A3, UGT1A4, UGT1A5, UGT1A6, UGT1A7, UGT1A8, UGT1A9
    Risk or phenotype-associated allele: (TA)7 repeat insertion in the UGT1A1 promoter. Phenotype: Patients with the UGT1A1*28 7/7 genotype had a statistically greater baseline total bilirubin than patients with homozygous (6-TA repeat) 6/6 or heterozygous 6/7 genotype (p = 0.005). UGT1A1*28 genotype was not associated with grade 3 and 4 neutropenia (p > 0.2) or diarrhea (p > 0.1). However, patients with the *28 7/7 genotype tended to have higher SN-38 area under the plasma time-concentration curve (AUC) values and lower SN-38-glucuronide to SN-38 AUC ratios. Study size: 74. Study population/ethnicity: Pediatric patients from five institutional clinical trials with solid tumors receiving low-dose, protracted irinotecan (15 to 75 mg/m2 daily for 5 days for 2 consecutive weeks). Significance metric(s): p = 0.005 - 0.2. Type of association: GN; PK; PD.
    Variant Name:
    UGT1A1*28, 7-TA insertion in promoter, short tandem repeat (microsatellite) (TA)7
    Related Drugs:
    irinotecan, SN-38
    Related Diseases:
    Drug Toxicity, Neoplasms
    Evidence:
    PMID:17577039
  2. rs7657958 at chr4:69717384 in UGT2B10
    The UGT2B1067Tyr variant corresponding to the UGT2B10 haplotype C is a functional single nucleotide polymorphism that may be responsible for inter individual variation in NNAL-N-glucuronidation activity and may increase susceptibility to smoking-related cancers.
    Variant Name:
    tagging SNP for UGT2B10:199G>T (Asp67Tyr)
    Related Drugs:
    nicotine
    Related Diseases:
    Neoplasms
    Evidence:
    PMID:17909004
    PMID:18300939
  3. rs2231142 at chr4:89271347 in ABCG2
    The ABCG2 421C>A genotype significantly affected the pharmacokinetics of diflomotecan in 5 patients heterozygous for this allele.
    Variant Name:
    ABCG2:421C>A; ABCG2:Q141K; rs2231142
    Related Drugs:
    diflomotecan
    Related Diseases:
    Neoplasms
    Evidence:
    PMID:15229462
  4. rs1138272 at chr11:67110155 in GSTP1
    A study of 124 White patients, which received a high-dose regimen consisting of cyclophosphamide, thiotepa and carboplatin as intravenous infusions, concludes patients homozygous for the GSTP1 C341T allele may have enhanced exposure to thiotepa and tepa.
    Variant Name:
    GSTP1: C341T; A114V
    Related Drugs:
    thiotepa
    Related Diseases:
    Neoplasms
    Evidence:
    PMID:19076156
  5. rs3765534 at chr13:94613416 in ABCC4
    Human lymphocyte cell lines homozygous for the A allele of this variant, common in Japanese populations, exhibit reduced surface membrane levels of ABCC4 protein and increased sensitivity to 6-mercaptopurine toxicity relative to cell lines homozygous for the G allele. The A-allele and G-allele cell lines have similar overall protein expression levels.
    Variant Name:
    ABCC4:G2269A, ABCC4:E857K
    Related Drugs:
    mercaptopurine
    Related Diseases:
    Neoplasms
    Evidence:
    PMID:18593894
  6. rs1042522 at chr17:7520197 in TP53
    The p53 codon 72 polymorphism was found be associated with different cancers, like colorectal adenocarcinoma, gastric cancer, and prostate cancer.
    Variant Name:
    TP53: c.215C>G; P72R; g.7176820G>C
    Related Diseases:
    Neoplasms
    Evidence:
    PMID:12824702
    PMID:17546594
    PMID:19339276
  7. rs11655505 at chr17:38531903 in BRCA1, NBR2
    This variant is in the promoter region of BRCA1. T allele is associated with increased promoter activity compared with the A allele. The carriers of T allele had a reduced risk of breast cancer in chinese women. The associate is more prominent in women aged >=45 years, particularly those without a family history of breast cancer.
    Variant Name:
    BRCA1: -2265C>T
    Related Diseases:
    Breast Neoplasms, Neoplasms
    Evidence:
    PMID:18782836

Non-Curated Annotations (Non-Curated Annotation)

  1. rs7538876 at chr1:17594950 in PADI6
    GWAS results: Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits. (Initial Sample Size: 930 cases, 33,117 controls; Replication Sample Size: 1,216 cases, 2,844 controls); (Region: 1p36.13; Reported Gene(s): PADI4, PADI6,RCC2, ARHGEF10L; Risk Allele: rs7538876-A); (p-value= 0.000000000004).This variant is associated with Basal cell carcinoma (cutaneous).
    Related Diseases:
    Neoplasms
    Evidence:
    PMID:18849993
    http://www.genome.gov/gwastudies/
  2. rs801114 at chr1:227064458
    GWAS results: Common variants on 1p36 and 1q42 are associated with cutaneous basal cell carcinoma but not with melanoma or pigmentation traits. (Initial Sample Size: 930 cases, 33,117 controls; Replication Sample Size: 1,216 cases, 2,844 controls); (Region: 1q42.13; Reported Gene(s): RHOU; Risk Allele: rs801114-G); (p-value= 0.000000000006).This variant is associated with Basal cell carcinoma (cutaneous).
    Related Diseases:
    Neoplasms
    Evidence:
    PMID:18849993
    http://www.genome.gov/gwastudies/
  3. rs10974944 at chr9:5060831 in JAK2
    GWAS results: A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms. (Initial Sample Size: 324 cases, 2,999 controls; Replication Sample Size: NR); (Region: 9p24.1; Reported Gene(s): JAK2); (p-value= 4E-20).This variant is associated with Myeloproliferative neoplasms.
    Related Diseases:
    Neoplasms
    Evidence:
    PMID:19287384
    http://www.genome.gov/gwastudies/
  4. rs2804402 at chr10:101531573 in ABCC2, NANOGP6
    ABCC2*2 (−1019a>G) is associated with lower irinotecan clearance and with significant reduction in severe diarrhea in cancer patients.
    Variant Name:
    ABCC2: ¿1019a>G
    Related Drugs:
    irinotecan
    Related Diseases:
    Diarrhea, Neoplasms
    Evidence:
    PMID:19940846
  5. rs2306283 at chr12:21221005 in SLCO1B1
    Approximately 50% of the variation in absolute neutrophil count nadir in cancer patients is explained by rs3765129, rs2306283 and UGT1a1*93; the AUCs of irinotecan, SN-38, SN-38 glucuronide, and APC are influenced by rs3740066, rs2306283, rs35605, rs10276036, and rs717620 .
    Variant Name:
    SLCO1B1: N130D
    Related Diseases:
    Neoplasms
    Evidence:
    PMID:19940846
  6. rs3765129 at chr16:16057402 in ABCC1
    Approximately 50% of the variation in absolute neutrophil count nadir in cancer patients is explained by rs3765129, rs2306283 and UGT1a1*93.
    Variant Name:
    ABCC1: IVS11 ¿48C>T
    Related Diseases:
    Neoplasms
    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 disease.

  Gene Relationship Evidence
Phenotype data available Genotype Data Available Literature annotations available Has annotations
ABCB1
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways
No phenotype data Genotype Data Available Literature annotations available Not annotated
ABCB10
  • CO
  • PD
  • PK
  •   
  •   
Publications
No phenotype data Genotype Data Available Literature annotations available Not annotated
ABCB11
  • CO
  • PD
  • PK
  •   
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
ABCC1
  • CO
  • PD
  • PK
  • FA
  •   
Publications, Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
ABCC2
  •   
  • PD
  • PK
  • FA
  •   
Publications, Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
ABCC3
  •   
  • PD
  • PK
  • FA
  •   
Publications, Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
ABCC4
  •   
  • PD
  • PK
  •   
  •   
Publications, Pathways, Variants
Phenotype data available Genotype Data Available Literature annotations available Not annotated
ABCC5
  •   
  • PD
  • PK
  • FA
  •   
Publications, Pathways
No phenotype data Genotype Data Available Literature annotations available Not annotated
ABCC6
  •   
  • PD
  • PK
  •   
  •   
Publications, Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
ABCG2
  •   
  • PD
  • PK
  • FA
  • GN
Publications, Pathways, Variants
No phenotype data No genotype data Literature annotations available Not annotated
ABL1
  •   
  •   
  •   
  •   
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Has annotations
ACE
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
ACO1
  •   
  • PD
  • PK
  •   
  •   
Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
ADA
  •   
  • PD
  • PK
  •   
  •   
Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
ADK
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
ADORA1
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
ADORA2A
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
ADORA2B
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
ADORA3
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data Genotype Data Available Literature annotations available Not annotated
AHCY
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
AKR1A1
  •   
  • PD
  •   
  •   
  •   
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
AKT1
  •   
  • PD
  •   
  • FA
  •   
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
AKT2
  •   
  • PD
  •   
  • FA
  •   
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
AKT3
  •   
  • PD
  •   
  • FA
  •   
Publications, Pathways
No phenotype data Genotype Data Available Literature annotations available Not annotated
ALDH2
  •   
  • PD
  •   
  •   
  • GN
Publications
No phenotype data Genotype Data Available Literature annotations available Not annotated
AOX1
  •   
  • PD
  • PK
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
AS3MT
  •   
  •   
  •   
  • FA
  • GN
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
ATIC
  •   
  • PD
  • PK
  •   
  •   
Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
ATM
  •   
  •   
  •   
  •   
  • GN
Publications
No phenotype data Genotype Data Available Literature annotations available Not annotated
ATP7A
  •   
  •   
  •   
  •   
  • GN
Publications
No phenotype data Genotype Data Available Literature annotations available Not annotated
ATP7B
  •   
  •   
  •   
  •   
  • GN
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
BAK1
  •   
  • PD
  •   
  • FA
  •   
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
BCR
  •   
  •   
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Has annotations
BRCA1
  • CO
  •   
  •   
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
BRCA2
  •   
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data No literature annotations Not annotated
BTC
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
CAMK1
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data No literature annotations Not annotated
CAMK1G
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
CBR1
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
CBR3
  • CO
  •   
  •   
  •   
  • GN
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
CBS
  •   
  • PD
  • PK
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
CCND1
  • CO
  •   
  •   
  •   
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
CDA
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
CDC5L
  • CO
  •   
  •   
  •   
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
CDKN1B
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
CES1
  •   
  •   
  • PK
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
CES2
  •   
  • PD
  • PK
  • FA
  •   
Publications, Pathways
Phenotype data available Genotype Data Available Literature annotations available Has annotations
COMT
  •   
  • PD
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
CRK
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data No literature annotations Not annotated
CRYAB
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data No literature annotations Not annotated
CSAG2
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
CSK
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
CTNND1
  •   
  • PD
  •   
  • FA
  •   
Publications
No phenotype data Genotype Data Available Literature annotations available Not annotated
CYP1A1
  • CO
  •   
  • PK
  •   
  • GN
Publications, Pathways
No phenotype data Genotype Data Available Literature annotations available Not annotated
CYP1A2
  • CO
  • PD
  • PK
  •   
  • GN
Publications, Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
CYP1B1
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways
No phenotype data Genotype Data Available Literature annotations available Has annotations
CYP2A6
  • CO
  • PD
  • PK
  •   
  • GN
Publications, Pathways
Phenotype data available Genotype Data Available Literature annotations available Has annotations
CYP2B6
  • CO
  • PD
  • PK
  •   
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Has annotations
CYP2C19
  • CO
  • PD
  • PK
  •   
  • GN
Publications, Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
CYP2C8
  •   
  • PD
  • PK
  •   
  • GN
Publications, Pathways
Phenotype data available Genotype Data Available Literature annotations available Has annotations
CYP2C9
  • CO
  • PD
  • PK
  •   
  •   
Publications, Pathways
Phenotype data available Genotype Data Available Literature annotations available Has annotations
CYP2D6
  • CO
  • PD
  • PK
  •   
  • GN
Publications, Pathways, Variants
Phenotype data available Genotype Data Available Literature annotations available Not annotated
CYP3A
  •   
  •   
  •   
  •   
  •   
Variants
Phenotype data available Genotype Data Available Literature annotations available Has annotations
CYP3A4
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways, Variants
Phenotype data available Genotype Data Available Literature annotations available Has annotations
CYP3A5
  •   
  • PD
  • PK
  • FA
  • GN
Publications, Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
DCK
  • CO
  •   
  •   
  • FA
  • GN
Publications
No phenotype data Genotype Data Available Literature annotations available Not annotated
DCTD
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
DDIT3
  •   
  • PD
  •   
  • FA
  •   
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
DHFR
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
DKC1
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
DNMT1
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Has annotations
DPYD
  • CO
  • PD
  • PK
  •   
  • GN
Publications, Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
DPYS
  •   
  •   
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
EGF
  • CO
  • PD
  •   
  •   
  • GN
Publications, Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
EGFR
  • CO
  • PD
  •   
  • FA
  • GN
Publications, Pathways
No phenotype data No genotype data No literature annotations Not annotated
ELK1
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
EPC2
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
ERBB2
  •   
  • PD
  •   
  • FA
  •   
Publications, Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
ERBB3
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
ERBB4
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
ERCC1
  • CO
  •   
  •   
  •   
  • GN
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
ERCC2
  • CO
  • PD
  • PK
  •   
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
EREG
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
FCGR2A
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
FCGR3A
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
FCGRT
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
FEZ1
  •   
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
FFAR2
  •   
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
FGF2
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
FGFR1
  •   
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
FLT1
  •   
  • PD
  •   
  • FA
  •   
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
FOS
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
FOXO1A
  •   
  • PD
  •   
  • FA
  •   
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
FPGS
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
FRS2
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
GART
  •   
  • PD
  • PK
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
GGH
  •   
  • PD
  • PK
  •   
  •   
Pathways
Phenotype data available No genotype data No literature annotations Not annotated
GMPS
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data Genotype Data Available Literature annotations available Not annotated
GPX1
  •   
  • PD
  •   
  •   
  •   
Publications
No phenotype data No genotype data No literature annotations Not annotated
GRB2
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data Genotype Data Available Literature annotations available Not annotated
GSTA1
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data Genotype Data Available Literature annotations available Not annotated
GSTA2
  •   
  • PD
  • PK
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
GSTM1
  • CO
  • PD
  • PK
  •   
  • GN
Publications, Pathways
No phenotype data Genotype Data Available Literature annotations available Not annotated
GSTO1
  •   
  •   
  •   
  • FA
  • GN
Publications
No phenotype data Genotype Data Available Literature annotations available Not annotated
GSTO2
  •   
  •   
  •   
  • FA
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Has annotations
GSTP1
  • CO
  • PD
  • PK
  •   
  • GN
Publications, Pathways, Variants
Phenotype data available Genotype Data Available Literature annotations available Not annotated
GSTT1
  • CO
  • PD
  • PK
  •   
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
HBEGF
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
HEY1
  •   
  •   
  •   
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
HIF1A
  • CO
  • PD
  •   
  • FA
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
HNMT
  •   
  • PD
  •   
  •   
  •   
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
HPRT1
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
HRAS
  •   
  • PD
  •   
  • FA
  •   
Publications, Pathways
No phenotype data Genotype Data Available Literature annotations available Not annotated
ICAM1
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data Genotype Data Available Literature annotations available Not annotated
IL8
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
IL8RA
  • CO
  •   
  •   
  •   
  • GN
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
IMPDH1
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
ITGAV
  •   
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
ITGB5
  •   
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
JAK1
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
JUP
  •   
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
KDR
  • CO
  • PD
  •   
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
KLF2
  •   
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
KLK15
  •   
  • PD
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
KRAS
  •   
  • PD
  •   
  • FA
  •   
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
LGALS1
  •   
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
LMNA
  •   
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
MAP2K1
  •   
  • PD
  •   
  • FA
  •   
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
MAP2K2
  •   
  • PD
  •   
  • FA
  •   
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
MAP2K3
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
MAP2K4
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
MAP2K5
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
MAP2K6
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data Genotype Data Available Literature annotations available Not annotated
MAP2K7
  •   
  • PD
  •   
  • FA
  •   
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
MAP3K1
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
MAP4
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
MAPK1
  •   
  • PD
  •   
  • FA
  •   
Publications, Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
MAPK10
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
MAPK11
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
MAPK12
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
MAPK13
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
MAPK14
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
MAPK3
  •   
  • PD
  •   
  • FA
  •   
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
MAPK4
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
MAPK6
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
MAPK7
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data Genotype Data Available Literature annotations available Not annotated
MAPK8
  •   
  • PD
  •   
  • FA
  •   
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
MAPK9
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
MAPT
  •   
  • PD
  • PK
  •   
  •   
Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
MCL1
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
MGMT
  •   
  •   
  •   
  • FA
  • GN
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
MLH1
  •   
  • PD
  • PK
  •   
  •   
Publications, Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
MPO
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data No literature annotations Not annotated
MRAS
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
MSH2
  •   
  • PD
  • PK
  •   
  •   
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
MSI1
  •   
  •   
  •   
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
MT-ND6
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
MTHFD1
  •   
  • PD
  • PK
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Has annotations
MTHFR
  • CO
  • PD
  • PK
  •   
  • GN
Publications, Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
MTHFS
  •   
  • PD
  • PK
  •   
  •   
Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
MTR
  •   
  • PD
  • PK
  •   
  •   
Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
MTRR
  •   
  • PD
  • PK
  •   
  •   
Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
MYC
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data No literature annotations Not annotated
NBR2
  •   
  •   
  •   
  •   
  •   
Variants
No phenotype data No genotype data Literature annotations available Not annotated
NDOR1
  •   
  •   
  •   
  • FA
  • GN
Publications
No phenotype data No genotype data No literature annotations Not annotated
NFKB2
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
NOS3
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Has annotations
NQO1
  •   
  • PD
  • PK
  •   
  •   
Publications, Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
NR1I2
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
NRAS
  •   
  • PD
  •   
  • FA
  •   
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
NRG1
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data No literature annotations Not annotated
NRG2
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
NRG3
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
NRP1
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
PARP1
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
PIGF
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
PIK3C2A
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
PIK3C2B
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
PIK3CA
  •   
  • PD
  •   
  • FA
  •   
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
PIK3CB
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
PIK3CD
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
PIK3CG
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
PIK3R5
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data Genotype Data Available Literature annotations available Not annotated
PLCB1
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data Genotype Data Available Literature annotations available Not annotated
PLCB2
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data Genotype Data Available Literature annotations available Not annotated
PLCB3
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
PLCB4
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
PLCD1
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
PLCD3
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
PLCD4
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
PLCE1
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
PLCG1
  •   
  • PD
  •   
  • FA
  •   
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
PLCG2
  •   
  • PD
  •   
  • FA
  •   
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
PLCH1
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
PLCH2
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data Genotype Data Available Literature annotations available Not annotated
PLCL1
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
PLCL2
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
PLCZ1
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
PML
  •   
  •   
  •   
  •   
  •   
Publications
No phenotype data Genotype Data Available Literature annotations available Not annotated
PNMT
  •   
  • PD
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
POLS
  • CO
  •   
  •   
  •   
  • GN
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
PPAT
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
PPP1R15A
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
PRKCA
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
PRKCB1
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data No literature annotations Not annotated
PRKCG
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
PRPS1
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
PSMC1
  •   
  • PD
  • PK
  •   
  •   
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
PTCH1
  • CO
  •   
  •   
  •   
  • GN
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
PTEN
  • CO
  •   
  •   
  • FA
  • GN
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
PTGS2
  • CO
  •   
  •   
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
RAC1
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
RAD52
  •   
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
RAF1
  •   
  • PD
  •   
  • FA
  •   
Publications, Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
RALBP1
  •   
  • PD
  • PK
  •   
  •   
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
RARA
  •   
  •   
  •   
  •   
  •   
Publications
No phenotype data No genotype data No literature annotations Not annotated
RRAS
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
RRM1
  • CO
  •   
  • PK
  •   
  • GN
Publications, Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
RRM2
  •   
  •   
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
SDHB
  • CO
  •   
  •   
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
SDHD
  • CO
  •   
  •   
  • FA
  • GN
Publications
No phenotype data No genotype data No literature annotations Not annotated
SHC1
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data No literature annotations Not annotated
SHC2
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data No literature annotations Not annotated
SHC3
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
SHMT1
  •   
  • PD
  • PK
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Has annotations
SLC19A1
  • CO
  • PD
  • PK
  •   
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
SLC22A11
  •   
  • PD
  • PK
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
SLC22A6
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data Genotype Data Available Literature annotations available Not annotated
SLC22A7
  •   
  •   
  • PK
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
SLC22A8
  •   
  • PD
  • PK
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
SLC28A2
  •   
  • PD
  • PK
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
SLC28A3
  •   
  • PD
  • PK
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
SLC29A1
  • CO
  • PD
  • PK
  •   
  • GN
Publications, Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
SLC29A2
  • CO
  • PD
  • PK
  •   
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
SMO
  • CO
  • PD
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
SMPD1
  •   
  • PD
  • PK
  •   
  •   
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
SMYD3
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
SOS1
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
SP1
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
ST14
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
STAT1
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
STAT2
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data Genotype Data Available Literature annotations available Not annotated
STAT3
  •   
  • PD
  •   
  • FA
  •   
Publications, Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
STAT4
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data Genotype Data Available Literature annotations available Not annotated
STAT5A
  •   
  • PD
  •   
  •   
  •   
Pathways
No phenotype data Genotype Data Available Literature annotations available Not annotated
STAT5B
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
TDP1
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
TIMP3
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
TK1
  •   
  •   
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
TLR5
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
TNFSF9
  •   
  • PD
  •   
  • FA
  •   
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
TOP1
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
TOP2A
  • CO
  • PD
  • PK
  •   
  •   
Publications, Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
TOP2B
  •   
  • PD
  • PK
  •   
  •   
Publications, Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
TP53
  •   
  •   
  •   
  • FA
  • GN
Publications, Variants
Phenotype data available Genotype Data Available Literature annotations available Has annotations
TPMT
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
TPT1
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
TUBA3C
  •   
  • PD
  • PK
  •   
  •   
Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
TUBB
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
TYMP
  •   
  •   
  • PK
  •   
  •   
Publications, Pathways
Phenotype data available Genotype Data Available Literature annotations available Has annotations
TYMS
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways
No phenotype data No genotype data No literature annotations Not annotated
UCK1
  •   
  •   
  • PK
  •   
  •   
Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
UCK2
  •   
  •   
  • PK
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Has annotations
UGT1A1
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways, Variants
No phenotype data Genotype Data Available Literature annotations available Not annotated
UGT1A10
  •   
  •   
  •   
  •   
  •   
Variants
No phenotype data Genotype Data Available Literature annotations available Not annotated
UGT1A3
  •   
  •   
  •   
  •   
  •   
Variants
No phenotype data Genotype Data Available Literature annotations available Not annotated
UGT1A4
  •   
  •   
  •   
  •   
  •   
Variants
No phenotype data Genotype Data Available Literature annotations available Not annotated
UGT1A5
  •   
  •   
  •   
  •   
  •   
Variants
Phenotype data available Genotype Data Available Literature annotations available Not annotated
UGT1A6
  •   
  •   
  •   
  •   
  •   
Variants
No phenotype data Genotype Data Available Literature annotations available Not annotated
UGT1A7
  •   
  •   
  • PK
  •   
  • GN
Publications, Variants
No phenotype data Genotype Data Available Literature annotations available Not annotated
UGT1A8
  •   
  •   
  •   
  •   
  •   
Variants
Phenotype data available Genotype Data Available Literature annotations available Not annotated
UGT1A9
  • CO
  •   
  • PK
  • FA
  • GN
Publications, Variants
No phenotype data Genotype Data Available Literature annotations available Not annotated
UGT2B10
  •   
  •   
  •   
  • FA
  • GN
Publications, Variants
Phenotype data available No genotype data Literature annotations available Not annotated
UMPS
  •   
  •   
  • PK
  •   
  •   
Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
UPB1
  •   
  •   
  • PK
  •   
  •   
Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
UPP1
  •   
  •   
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
UPP2
  •   
  •   
  • PK
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Has annotations
VDR
  •   
  • PD
  • PK
  •   
  •   
Pathways, Variants
Phenotype data available No genotype data Literature annotations available Not annotated
VEGFA
  • CO
  • PD
  • PK
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
VEGFB
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
XDH
  •   
  • PD
  • PK
  •   
  •   
Publications, Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
XRCC1
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
ZNF706
  •   
  • PD
  •   
  • FA
  •   
Publications

Non-Curated Information

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

Curated Information

The following drugs are in curated knowledge about this disease.

  Drug Class Relationship Evidence
No phenotype data No genotype data Literature annotations available Not annotated
anthracyclines and related substances
  • CO
  •   
  •   
  • FA
  • 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
artemisinin and derivatives
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Imidazothiazole derivatives
  • CO
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
opioids
  • CO
  •   
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
xenobiotics
  •   
  • PD
  •   
  •   
  •   
Publications
  Drug Relationship Evidence
No phenotype data No genotype data Literature annotations available Not annotated
2-methoxyestradiol
  •   
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
3,4-methylenedioxymethamphetamine
  •   
  • PD
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
acetylcysteine
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
arsenic trioxide
  •   
  •   
  •   
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
axitinib
  •   
  • PD
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
azacitidine
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
azathioprine
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
bevacizumab
  • CO
  • PD
  •   
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
Biricodar
  • CO
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
bortezomib
  • CO
  •   
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
brivanib
  •   
  • PD
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
calcein
  • CO
  •   
  •   
  • FA
  •   
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
camptothecin
  •   
  • PD
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
canertinib
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
capecitabine
  • CO
  • PD
  • PK
  •   
  • GN
Publications, Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
carboplatin
  •   
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
carmustine
  • CO
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
CBLB502
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
celecoxib
  •   
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
cetuximab
  • CO
  • PD
  •   
  •   
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
cilengitide
  •   
  • PD
  •   
  •   
  •   
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
cisplatin
  •   
  • PD
  •   
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
clomipramine
  • CO
  • PD
  • PK
  •   
  •   
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
  • PD
  • PK
  •   
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
cytarabine
  • CO
  •   
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
daunorubicin
  • CO
  • PD
  •   
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
debrisoquine
  •   
  •   
  •   
  •   
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
dexamethasone
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
diflomotecan
  •   
  •   
  • PK
  •   
  • GN
Publications, Variants
No phenotype data No genotype data No literature annotations Not annotated
dimethyl sulfoxide
  •   
  • PD
  • PK
  •   
  •   
Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
docetaxel
  • CO
  • PD
  • PK
  •   
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
doxorubicin
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
ebselen
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
EKB-569
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
epinephrine
  •   
  • PD
  •   
  •   
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
epirubicin
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
erlotinib
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
ethacrynic acid
  • CO
  •   
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
etoposide
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
flavopiridol
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
fluorouracil
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
fluphenazine
  • CO
  • PD
  • PK
  •   
  •   
Publications
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
gefitinib
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways, Variants
Phenotype data available Genotype Data Available Literature annotations available Not annotated
gemcitabine
  • CO
  • PD
  •   
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
genistein
  • CO
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
GW2016
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
haloperidol
  • CO
  • PD
  • PK
  •   
  •   
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
idarubicin
  • CO
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
ifosfamide
  •   
  •   
  • PK
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
imatinib
  •   
  •   
  • PK
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
indomethacin
  • CO
  •   
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
irinotecan
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
lapatinib
  •   
  • PD
  •   
  •   
  •   
Pathways
Phenotype data available No genotype data Literature annotations available Not annotated
leucovorin
  • CO
  • PD
  • PK
  •   
  • GN
Publications, Pathways
Phenotype data available Genotype Data Available Literature annotations available Not annotated
mercaptopurine
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways, Variants
Phenotype data available Genotype Data Available Literature annotations available Not annotated
methotrexate
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
mitoxantrone
  • CO
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
MK-571
  • CO
  •   
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
nicotine
  •   
  •   
  •   
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
O6-(4-Bromothenyl)guanine
  •   
  •   
  •   
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
oxaliplatin
  • CO
  • PD
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
paclitaxel
  •   
  • PD
  • PK
  •   
  • GN
Publications, Pathways, Variants
No phenotype data No genotype data Literature annotations available Not annotated
panitumumab
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
platinum
  •   
  •   
  •   
  •   
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
probenecid
  • CO
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
pyridoxine
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
raltitrexed
  • CO
  • PD
  •   
  •   
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
rifampin
  •   
  • PD
  • PK
  •   
  •   
Pathways
No phenotype data No genotype data Literature annotations available Not annotated
rofecoxib
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
semaxanib
  •   
  • PD
  • PK
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
sertraline
  • CO
  • PD
  • PK
  •   
  •   
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
sorafenib
  •   
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
sunitinib
  •   
  • PD
  •   
  •   
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
tamoxifen
  • CO
  • PD
  • PK
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
tegafur
  •   
  •   
  • PK
  •   
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
telcyta
  •   
  •   
  • PK
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
teniposide
  •   
  •   
  • PK
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
thalidomide
  •   
  •   
  • PK
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
thioguanine
  •   
  • PD
  • PK
  • FA
  • GN
Publications, Pathways
No phenotype data No genotype data Literature annotations available Not annotated
vatalanib
  •   
  •   
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
vincristine
  •   
  •   
  • PK
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
vinyl chloride
  •   
  • PD
  •   
  •   
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
warfarin
  • CO
  • PD
  • PK
  •   
  •   
Publications

Non-Curated Information

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

Non-Curated Information

A list of non-curated publications that mention this disease 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. An association of CYP2A6 genotype and smoking topography
  2. EGFR mutations, expression, amplification, polymorphisms in the NCI60 cell lines
  3. Framingham SNP Health Association Resource (SHARe)
  4. Identification of Genetic Variants Associated with Expression Differences between Populations
  5. Pharmacogenetic Pathway Analysis of Irinotecan
  6. PHARMACOKINETICS OF ERLOTINIB and ERLOTINIB induced TOXICITY

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Common Searches

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Non-Curated Publications

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

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