PharmGKB: The Pharmacogenomics Knowledge Base

Disease:
Diabetes Mellitus, Type 2

Overview

Alternate Names: Adult-Onset Diabetes Mellitus; Diabetes Mellitus, Adult Onset; Diabetes Mellitus, Adult-Onset; Diabetes Mellitus, Ketosis Resistant; Diabetes Mellitus, Ketosis-Resistant; Diabetes Mellitus, Maturity Onset; Diabetes Mellitus, Maturity-Onset; Diabetes Mellitus, Non Insulin Dependent; Diabetes Mellitus, Non-Insulin-Dependent; Diabetes Mellitus, Noninsulin Dependent; Diabetes Mellitus, Slow Onset; Diabetes Mellitus, Slow-Onset; Diabetes Mellitus, Stable; Diabetes Mellitus, Type 2; Diabetes Mellitus, Type II; Diabetes mellitus - adult onset; Diabetes mellitus type 2; Diabetes mellitus type II; Ketosis-Resistant Diabetes Mellitus; MODY; Maturity Onset Diabetes Mellitus; Maturity onset diabetes mellitus; Maturity-Onset Diabetes Mellitus; NIDDM; NIDDM (non insulin dependent diabetes mellitus); NIDDM - Non-insulin dependent diabetes mellitus; Non-Insulin-Dependent Diabetes Mellitus; Non-insulin-dependent diabetes mellitus; Slow-Onset Diabetes Mellitus; Stable Diabetes Mellitus; Type II diabetes mellitus; diabete metillus
PharmGKB Accession Id: PA443890
External Vocabularies
  • MeSH: D003924 - Diabetes Mellitus, Type 2
  • SnoMed Clinical Terminology: 44054006 - Diabetes mellitus type 2
  • Unified Medical Language System: C0011860 - C0011860

Curated Annotations (Curated Annotation)

  1. rs6698181 at chr1:88915893 in PKN2
    rs6698181 demonstrated association with Type 2 Diabetes in a GWAS of Finnish and Swedish patients and controls.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463246
  2. rs903361 at chr1:201357897 in ADORA1
    In a study conducted in 87 outpatients with type 2 diabetes receiving thiazolidinedione therapy this SNP located in intron 2 of the ADORA1 gene (rs903361C/T, p<0.0003) was significantly associated with the risk of high Body mass index.
    Related Drugs:
    thiazolidinediones
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:18996102
  3. rs340874 at chr1:212225879 in PROX1
    Phenotype : In a meta-analysis of 21 GWAS cohorts followed by analysis in additional individuals, this SNP was found to be associated with fasting glucose level. Study size: 116,882. Significance metric(s): p = 6.6 x 10(-12). Study population/ethnicity: Non-diabetic Individuals of European descent. Type of association: CO;GN.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:20081858
  4. rs10192566 at chr2:11807879 in LPIN1
    A study in patients with type 2 diabetes treated with rosiglitazone showed that this SNP in the LPIN1 gene was significantly associated with rosiglitazone treatment response. rs11693809 and rs2278513 are in nearly complete linkage disequilibrium with rs10192566.
    Related Drugs:
    rosiglitazone
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:18693052
  5. rs1260326 at chr2:27584444 in GCKR
    Risk or phenotype-associated allele: T . Phenotype: In a meta-analysis of nine genome-wide association studies (n = 15,234 nondiabetic individuals) and a follow-up of 29 independent loci (n = 6,958-30,620), this SNP was found to be associated with 2-h glucose level (a clinical measure of glucose tolerance). Effect (s.e.m.) = 0.07(0.01) mmol/l per T allele. Study size/population/ethnicity: 15,234 plus 6,958-30,620 nondiabetic individuals of European descent. Significance metric(s): p = 7.05 x 10(-11). Type of association: CO;GN.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:20081857
  6. rs780094 at chr2:27594741 in GCKR
    In a GWAS of Finnish and Swedish Type 2 Diabetes patients and controls, rs780094 showed replicated association with triglyceride levels.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463246
  7. rs780094 at chr2:27594741 in GCKR
    Phenotype 1 : In a meta-analysis of 21 GWAS cohorts followed by analysis in additional individuals, this SNP was found to be associated with fasting glucose level. Study size: 118,032. Significance metric(s): p = 5.6 x 10(-38). Phenotype 2 : In a meta-analysis of 21 GWAS cohorts followed by analysis in additional individuals, this SNP was found to be associated with fasting insulin level. Study size: 96,126. Significance metric(s): p = 3.6 x 10(-20). Phenotype 3 : In a meta-analysis of 21 GWAS cohorts followed by analysis in additional individuals, this SNP was found to be associated with HOMA-IR (homeostasis model assessment of insulin resistance). Study size: 94,636. Significance metric(s): p = 3.0 x 10(-24). Study population/ethnicity: Non-diabetic Individuals of European descent. Type of association: CO;GN.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:20081858
  8. rs560887 at chr2:169471394 in G6PC2
    Phenotype 1: In a meta-analysis of 21 GWAS cohorts followed by analysis in additional individuals, this SNP was found to be associated with fasting glucose level. Study size: 119,169. Significance metric(s): p = 8.7 x 10(-218). Phenotype 2: In the same study, this SNP was found to be associated with HOMA-B (homeostasis model assessment of beta-cell function). Study size: 94,839. Significance metric(s): p = 1.5 x 10(-66). Study population/ethnicity: Non-diabetic Individuals of European descent. Type of association: CO;GN.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:20081858
  9. rs1801282 at chr3:12368125 in PPARG
    In a large Finnish case-control GWAS, rs1801282 was found to be associated with susceptibility to Type 2 Diabetes.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463248
  10. rs11708067 at chr3:124548468 in ADCY5
    Phenotype 1: In a meta-analysis of 21 GWAS cohorts followed by analysis in additional individuals, this SNP was found to be associated with fasting glucose level. Study size: 118,475. Significance metric(s): p = 7.1 x 10(-22). Phenotype 2: In the same study, this SNP was found to be associated with HOMA-B (homeostasis model assessment of beta-cell function). Study size: 94,212. Significance metric(s): p = 2.5 x 10(-12). Study population/ethnicity: Non-diabetic Individuals of European descent. Type of association: CO;GN.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:20081858
  11. rs2877716 at chr3:124577141 in ADCY5
    Risk or phenotype-associated allele: C . Phenotype: In a meta-analysis of nine genome-wide association studies (n = 15,234 nondiabetic individuals) and a follow-up of 29 independent loci (n = 6,958-30,620), this SNP was found to be associated with 2-h glucose level (a clinical measure of glucose tolerance). Effect (s.e.m.) = 0.09(0.01) mmol/l per C allele. Study size/population/ethnicity: 15,234 plus 6,958-30,620 nondiabetic individuals of European descent. Significance metric(s): p = 4.19 x 10(-16). Type of association: CO;GN.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:20081857
  12. rs11920090 at chr3:172200215 in SLC2A2
    Phenotype : In a meta-analysis of 21 GWAS cohorts followed by analysis in additional individuals, this SNP was found to be associated with fasting glucose level. Study size: 119,024. Significance metric(s): p = 8.1 x 10(-13). Study population/ethnicity: Non-diabetic Individuals of European descent. Type of association: CO;GN.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:20081858
  13. rs4402960 at chr3:186994381 in IGF2BP2
    rs4402960 demonstrated association with Type 2 Diabetes in a GWAS of Finnish and Swedish patients and controls.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463246
  14. rs4402960 at chr3:186994381 in IGF2BP2
    rs4402960 is associated with susceptibility to Type 2 Diabetes. The association has been noted in two case-control studies of UK subjects as well as in two other large case-control studies.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463249
  15. rs4402960 at chr3:186994381 in IGF2BP2
    In a large Finnish case-control GWAS, rs4402960 was found to be associated with susceptibility to Type 2 Diabetes.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463248
  16. rs1470579 at chr3:187011774 in IGF2BP2
    This variant has been reported to be moderately associated with type 2 diabetes.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:18461161
  17. rs10010131 at chr4:6343816 in WFS1
    rs10010131 was found to be associated with Type 2 Diabetes risk in a case-control study of UK populations; the association was replicated in an Ashkenazi population.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17603484
  18. rs6446482 at chr4:6346594 in WFS1
    rs6446482 was found to be associated with Type 2 Diabetes risk in a case-control study of UK populations; the association was replicated in an Ashkenazi population.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17603484
  19. rs17044137 at chr4:113014746
    rs17044137 demonstrated association with Type 2 Diabetes in a GWAS of Finnish and Swedish patients and controls.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463246
  20. rs10946398 at chr6:20769013 in CDKAL1
    rs10946398 is associated with susceptibility to Type 2 Diabetes. This association was identified in a UK case-control study and was replicated in another UK case-control cohort as well as in two other large case-control studies.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463249
  21. rs7754840 at chr6:20769229 in CDKAL1
    rs7754840 demonstrated association with Type 2 Diabetes in a GWAS of Finnish and Swedish patients and controls.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463246
  22. rs7754840 at chr6:20769229 in CDKAL1
    In a large Finnish case-control GWAS, rs7754840 was found to be associated with susceptibility to Type 2 Diabetes.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463248
  23. rs7756992 at chr6:20787688 in CDKAL1
    This variant has been reported to be significantly associated with type 2 diabetes.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:18461161
  24. rs1033182 at chr6:152236727 in ESR1
    Associated with type 2 diabetes.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17327435
    PMID:17513703
  25. rs3020314 at chr6:152312365 in ESR1
    In a French study population, the C allele of this SNP, which is located in intron 4 of ESR1, was associated with increased incidence of type 2 diabetes (diabetes mellitus, type 2). The C allele of this SNP was associated with increased fasting plasma glucose levels in Swedish males, although there was no significant association in the Swedish cohort between this SNP and type 2 diabetes.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:18854778
  26. rs1884051 at chr6:152324972 in ESR1
    The G allele of this SNP was associated with increased incidence of type 2 diabetes in a French cohort, but not in a Swedish cohort. However, this association was not significant following Bonferroni correction for analysis of 20 SNPs.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:18854778
  27. rs985694 at chr6:152328318 in ESR1
    The T allele of this SNP, which is located in intron 4 of the ESR1 gene, was associated with type 2 diabetes (diabetes mellitus, type 2) in a French population, but not in a Swedish cohort.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:18854778
  28. rs2191349 at chr7:15030834
    Phenotype 1: In a meta-analysis of 21 GWAS cohorts followed by analysis in additional individuals, this SNP was found to be associated with fasting glucose level. Study size: 122,743. Significance metric(s): p = 3.0 x 10(-44). Phenotype 2: In the same study, this SNP was found to be associated with HOMA-B (homeostasis model assessment of beta-cell function). Study size: 98,372. Significance metric(s): p = 2.8 x 10(-17). Study population/ethnicity: Non-diabetic Individuals of European descent. Type of association: CO;GN.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:20081858
  29. rs4607517 at chr7:44202193 in GCK, YKT6
    Phenotype 1: In a meta-analysis of 21 GWAS cohorts followed by analysis in additional individuals, this SNP was found to be associated with fasting glucose level. Study size: 118,500. Significance metric(s): p = 6.5 x 10(-92). Phenotype 2: In the same study, this SNP was found to be associated with HOMA-B (homeostasis model assessment of beta-cell function). Study size: 94,112. Significance metric(s): p = 1.8 x 10(-16). Study population/ethnicity: Non-diabetic Individuals of European descent. Type of association: CO;GN.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:20081858
  30. rs13266634 at chr8:118253964 in SLC30A8
    This variant has been reported to be significantly associated with type 2 diabetes.
    Variant Name:
    SLC30A8:Arg325Trp; SLC30A8:R325W
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17786204
    PMID:18162508
    PMID:18264689
    PMID:18324385
  31. rs13266634 at chr8:118253964 in SLC30A8
    rs13266634 is associated with susceptibility to Type 2 Diabetes. The association has been noted in two case-control studies of UK subjects as well as in two other large case-control studies.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463249
  32. rs13266634 at chr8:118253964 in SLC30A8
    In a large Finnish case-control GWAS, rs13266634 was found to be associated with susceptibility to Type 2 Diabetes.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463248
  33. rs11558471 at chr8:118254914 in SLC30A8
    Phenotype: In a meta-analysis of 21 GWAS cohorts, this SNP was found to be associated with fasting glucose level. Study size: 45,996. Significance metric(s): p = 2.6 x 10(-11). Study population/ethnicity: Non-diabetic Individuals of European descent. Type of association: CO;GN.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:20081858
  34. rs7034200 at chr9:4279050
    Phenotype 1: In a meta-analysis of 21 GWAS cohorts followed by analysis in additional individuals, this SNP was found to be associated with fasting glucose level. Study size: 106,250. Significance metric(s): p = 1.0 x 10(-12). Phenotype 2: In the same study, this SNP was found to be associated with HOMA-B (homeostasis model assessment of beta-cell function). Study size: 83,759. Significance metric(s): p = 1.2 x 10(-13). Study population/ethnicity: Non-diabetic Individuals of European descent. Type of association: CO;GN.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:20081858
  35. rs564398 at chr9:22019547 in CDKN2BAS
    rs564398 is associated with susceptibility to Type 2 Diabetes. The association has been noted in two case-control studies of UK subjects as well as in another large case-control study.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463249
  36. rs10811661 at chr9:22124094
    This variant is associated with improvement in beta-cell function for carriers of the protective genotype at CDKN2A/B after one year of troglitazone treatment and lifestyle modification.
    Related Drugs:
    troglitazone
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:18544707
  37. rs10811661 at chr9:22124094
    This variant has been reported to be significantly associated with type 2 diabetes in multiple ethnic population.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:18162508
    PMID:18437351
    PMID:18461161
  38. rs10811661 at chr9:22124094
    rs10811661 demonstrated association with Type 2 Diabetes in a GWAS of Finnish and Swedish patients and controls.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463246
  39. rs10811661 at chr9:22124094
    rs10811661 is associated with susceptibility to Type 2 Diabetes. The association has been noted in two case-control studies of UK subjects as well as in two other large case-control studies.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463249
  40. rs10811661 at chr9:22124094
    In a large Finnish case-control GWAS, rs10811661 was found to be associated with susceptibility to Type 2 Diabetes.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463248
  41. rs1111875 at chr10:94452862
    This variant may be associated with decreased insulin sensitivity in carriers of the risk genotype.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:18544707
  42. rs1111875 at chr10:94452862
    rs1111875 demonstrated association with Type 2 Diabetes in a GWAS of Finnish and Swedish patients and controls.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463246
  43. rs1111875 at chr10:94452862
    In a case-control study on subjects from the UK, rs1111875 was shown to be associated with susceptibility to Type 2 Diabetes.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463249
  44. rs1111875 at chr10:94452862
    In a large Finnish case-control GWAS, rs1111875 was found to be associated with susceptibility to Type 2 Diabetes.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463248
  45. rs1799853 at chr10:96692037 in CYP2C9
    Risk or phenotype-associated allele: CYP2C9*2, rs1799853 T allele, Cys144. Phenotype: Drug response phenotypes included (1) reaching target HbA(1c), (2) maximum HbA(1c) reduction, and (3) time to monotherapy failure. Patients homozygous for the loss-of-function CYP2C9 alleles (*2/*2, *2/*3, *3/*3) achieved greater treatment target (OR = 3.4, p = 0.0009), 0.5% greater reduction in target HbA1c concentration (p = 0.003), and lower risk of monotherapy failure based an additive genetic model (allelic hazard ratio 0.79, 95% confidence interval 0.63-0.99, p = 0.04), compared to wild-type allele (*1) carriers. Study size: 1,073 patients (578 drug-naive, 495 with prior and continued metformin exposure). Study population/ethnicity: Diabetes patients recruited in Tayside, Scotland for the Diabetes Audit and Research Tayside Study (DARTS), between 1992 and 2007, who were incident sulfonylurea users. Significance metric(s): p = (0.04 - 0.0009) Type of association: GN; PD
    Variant Name:
    CYP2C9*2, c.430C>T, mRNA 455C>T, p.Arg144Cys
    Related Drugs:
    glibenclamide, gliclazide, glimepiride, glipizide, metformin, sulfonamides, urea derivatives
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:19794412
  46. rs1057910 at chr10:96731043 in CYP2C9
    Risk or phenotype-associated allele: CYP2C9*3, rs1057910 C allele, Leu359. Phenotype: Drug response phenotypes included (1) reaching target HbA(1c), (2) maximum HbA(1c) reduction, and (3) time to monotherapy failure. Patients homozygous for the loss-of-function CYP2C9 alleles (*2/*2, *2/*3, *3/*3) achieved greater treatment target (OR = 3.4, p = 0.0009), 0.5% greater reduction in target HbA1c concentration (p = 0.003), and lower risk of monotherapy failure based an additive genetic model (allelic hazard ratio 0.79, 95% confidence interval 0.63-0.99, p = 0.04), compared to wild-type allele (*1) carriers. Study size: 1,073 patients (578 drug-naive, 495 with prior and continued metformin exposure). Study population/ethnicity: Diabetes patients recruited in Tayside, Scotland for the Diabetes Audit and Research Tayside Study (DARTS), between 1992 and 2007, who were incident sulfonylurea users. Significance metric(s): p = (0.04 - 0.0009) Type of association: GN; PD
    Variant Name:
    CYP2C9*3, c.1075A>C, mRNA 11A>C, p.Ile359Leu
    Related Drugs:
    glibenclamide, gliclazide, glimepiride, glipizide, metformin, sulfonamides, urea derivatives
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:19794412
  47. rs10509681 at chr10:96788739 in CYP2C8
    CYP2C8*3 allele (containing Arg139Lys and Lys399Arg) is associated with increased the clearance of meglitinides.
    Variant Name:
    CYP2C8: K399R; A1196G; CYP2C8*3
    Related Drugs:
    meglitinides
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17963417
  48. rs11572080 at chr10:96817020 in CYP2C8
    CYP2C8*3 allele (containing Arg139Lys and Lys399Arg) is associated with increased the clearance of meglitinides.
    Variant Name:
    CYP2C8: R139K; G416A; CYP2C8*3
    Related Drugs:
    meglitinides
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17963417
  49. rs7911129 at chr10:112330861 in SMC3
    Risk or phenotype-associated allele: A allele. Phenotype: Decreased fasting glucose. Study size: 4681. Study population/ethnicity: Replication study of Swedish control subjects. Significance metric(s): p = 0.02. Type of association: FA; GN.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:19965390
  50. rs553668 at chr10:112829569 in ADRA2A
    Risk or phenotype-associated allele: A allele. Phenotype: There is increased risk of type 2 diabetes (OR = 1.42, p = 0.04, recessive effect) for carriers of the A allele. Among individuals with low body mass index (<24) or low C-peptide levels (<0.6), there is an increased disease risk in heterozygous subjects (OR = 1.31, p = 0.02, and OR = 1.28, p = 0.03, respectively, using an additive model). These associations were also significant after correcting for rs7903146 genotype in TCF7L2. Study size: 2830 cases and 3740 controls. Study population/ethnicity: Swedish diabetics and unrelated, ethnically-matched non-diabetic controls. Significance metric(s): OR >= 1.28, p <= 0.04. Type of association: CO; GN.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:19965390
  51. rs553668 at chr10:112829569 in ADRA2A
    Risk or phenotype-associated allele: A allele. Phenotype: Decreased fasting insulin (p = 0.0004) and impaired insulin secretion during intravenous glucose tolerance test in pancreatic islets isolated from subjects (p = 0.03). Study size: 4681. Study population/ethnicity: Replication study of Swedish control subjects. Significance metric(s): p <= 0.03. Type of association: FA; GN.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:19965390
  52. rs553668 at chr10:112829569 in ADRA2A
    Risk or phenotype-associated allele: A allele. Phenotype: ADRA2A transcript and protein overexpression in pancreatic islets (p < 0.05 for GG versus GA/AA, and for linear regression of expression versus number of risk alleles). Study size: 32. Study population/ethnicity: Human pancreatic islets isolated from Swedes. Significance metric(s): p < 0.05. Type of association: GN; FA.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:19965390
  53. rs602618 at chr10:112833075 in ADRA2A
    Risk or phenotype-associated allele: A allele. Phenotype: Decreased fasting insulin. Study size: 4681. Study population/ethnicity: Replication study of Swedish control subjects. Significance metric(s): p = 0.001. Type of association: FA; GN.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:19965390
  54. rs10885122 at chr10:113032083
    Phenotype : In a meta-analysis of 21 GWAS cohorts followed by analysis in additional individuals, this SNP was found to be associated with fasting glucose level. Study size: 118,410. Significance metric(s): p = 2.9 x 10(-16). Study population/ethnicity: Non-diabetic Individuals of European descent. Type of association: CO;GN.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:20081858
  55. rs4506565 at chr10:114746031 in TCF7L2
    This variant has been reported to be significantly associated with type 2 diabetes in several studies.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17554300
  56. rs4506565 at chr10:114746031 in TCF7L2
    Phenotype: In a meta-analysis of 21 GWAS cohorts, this SNP was found to be associated with fasting glucose level. Study size: 46,181. Significance metric(s): p = 1.2 x 10(-8). Study population/ethnicity: Non-diabetic Individuals of European descent. Type of association: CO;GN.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:20081858
  57. rs7903146 at chr10:114748339 in TCF7L2
    This variant has been reported to be significantly associated with type 2 diabetes in multiple studies, the CT/TT genotypes of rs7903146 strongly predicted future T2D.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17554300
    PMID:17671651
    PMID:18239663
    PMID:18264689
  58. rs7903146 at chr10:114748339 in TCF7L2
    rs7903146 demonstrated association with Type 2 Diabetes in a GWAS of Finnish and Swedish patients and controls.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463246
  59. rs7903146 at chr10:114748339 in TCF7L2
    In a large Finnish case-control GWAS, rs7903146 was found to be associated with susceptibility to Type 2 Diabetes.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463248
  60. rs12243326 at chr10:114778805 in TCF7L2
    Risk or phenotype-associated allele: C . Phenotype: In a meta-analysis of nine genome-wide association studies (n = 15,234 nondiabetic individuals) and a follow-up of 29 independent loci (n = 6,958-30,620), this SNP was found to be associated with 2-h glucose level (a clinical measure of glucose tolerance). Effect (s.e.m.) = 0.08(0.01) mmol/l per C allele. Study size/population/ethnicity: 15,234 plus 6,958-30,620 nondiabetic individuals of European descent. Significance metric(s): p = 4.23 x 10(-10). Type of association: CO;GN.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:20081857
  61. rs12255372 at chr10:114798892 in TCF7L2
    The variant in the intronic region of TCF7L2 was found to substantially contribute to the risk of type 2 diabetes. The TCF7L2 variant influences therapeutic response to sulfonylureas but not metformin.
    Related Drugs:
    sulfonamides, urea derivatives
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17519421
  62. rs290487 at chr10:114899721 in TCF7L2
    Risk or phenotype-associated allele: T allele. Phenotype: Body mass index was significantly lower (p < 0.030), and cholesterol levels (p < 0.012)) were significantly higher in T2DM patients with the T allele in a comparison of the TT, TC, and CC genotypes. Study size: 259. Study population/ethnicity: Chinese type 2 Diabetes (T2DM) patients. Significance metric(s): p < 0.03. Type of association: GN
    Variant Name:
    TCF7L2: intronic C>T SNP
    Related Drugs:
    repaglinide
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:20054294
  63. rs290487 at chr10:114899721 in TCF7L2
    Risk or phenotype-associated allele: T allele. Phenotype: Body mass index was significantly lower (p < 0.030), and cholesterol levels (p < 0.012)) were significantly higher in T2DM patients with the T allele in a comparison of the TT, TC, and CC genotypes. Study size: 259. Study population/ethnicity: Chinese type 2 Diabetes (T2DM) patients. Significance metric(s): p < 0.03. Type of association: GN.
    Variant Name:
    TCF7L2: intronic C>T SNP
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:20054294
  64. rs290487 at chr10:114899721 in TCF7L2
    Risk or phenotype-associated allele: TT genotype. Phenotype: After 8-week repaglinide treatment, fasting insulin, triglycerides, and low-density lipoprotein cholesterol (LDL-c) were significantly increased in T2DM patients with the TT genotype (n = 14) compared to patients with the CC and TC genotypes combined (n = 26) (p < 0.043), meaning that TT subjects showed improved repaglinide efficacy compared to subjects with the TC and CC genotypes. Study Size: 40. Study population/ethnicity: Chinese type 2 Diabetes (T2DM) patients with uniform genotype with regard to SLCO1B3 (OATP1B1) T521C. Significance metric(s): p < 0.043. Type of association: GN; PD
    Variant Name:
    TCF7L2: intronic C>T SNP
    Related Drugs:
    repaglinide
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:20054294
  65. rs5219 at chr11:17366148 in KCNJ11
    rs5219 demonstrated association with Type 2 Diabetes in a GWAS of Finnish and Swedish patients and controls.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463246
  66. rs5219 at chr11:17366148 in KCNJ11
    In a large Finnish case-control GWAS, rs5219 was found to be associated with susceptibility to Type 2 Diabetes.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463248
  67. rs5219 at chr11:17366148 in KCNJ11
    Risk or phenotype-associated allele: G allele. Phenotype: Increased levels of fasting plasma glucose (FPG) and postprandial plasma glucose (PPG) (p < 0.05); and post-repaglinide treatment, GA or AA genotype carries had increased levels of FPG, PPG, and glycated hemoglobin (HbA(1c)) compared with patients with the GG genotype (p < 0.05) Study size: 259 type II diabetes cases and 188 healthy controls. Study population/ethnicity: Chinese. Significance metric(s): p < 0.05. Type of association: GN; PD.
    Variant Name:
    KCNJ11: Lys23Glu
    Related Drugs:
    repaglinide
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:20054294
  68. rs5219 at chr11:17366148 in KCNJ11
    Risk or phenotype-associated allele: G (23Glu) allele. Phenotype: Baseline clinical characteristic (fasting plasma glucose (p < 0.032)), postprandial plasma glucose (p < 0.014) levels) were significantly increased in T2DM patients with the G (23Glu) allele in a comparison of the GG, GA and AA genotypes. Study size: 259. Study population/ethnicity: Chinese type 2 Diabetes (T2DM) patients. Significance metric(s): p < 0.032. Type of association: GN.
    Variant Name:
    KCNJ11:67A>G, Lys23Glu (E23K)
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:20054294
  69. rs5219 at chr11:17366148 in KCNJ11
    Risk or phenotype-associated allele: GG (23Glu/Glu) genotype. Phenotype: After 8-week repaglinide treatment, levels of fasting plasma glucose, postprandial plasma glucose, and percent HbA(1c) glycated hemoglobin were significantly lower in T2DM patients with the GG (23Glu/Glu) genotype (n = 18) compared to patients with the AA (23Lys/Lys) and AG (23Lys/Glu) genotypes combined (n = 22) (p < 0.036). Study Size: 40. Study population/ethnicity: Chinese type 2 Diabetes (T2DM) patients with uniform genotype with regard to SLCO1B3 (OATP1B1) T521C. Significance metric(s): p < 0.036. Type of association: GN; PD.
    Variant Name:
    KCNJ11:67A>G, Lys23Glu (E23K)
    Related Drugs:
    repaglinide
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:20054294
  70. rs9300039 at chr11:41871942
    In a large Finnish case-control GWAS, rs9300039 was found to be associated with susceptibility to Type 2 Diabetes.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463248
  71. rs11605924 at chr11:45829667 in CRY2
    Phenotype : In a meta-analysis of 21 GWAS cohorts followed by analysis in additional individuals, this SNP was found to be associated with fasting glucose level. Study size: 116,479. Significance metric(s): p = 1.0 x 10(-14). Study population/ethnicity: Non-diabetic Individuals of European descent. Type of association: CO;GN.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:20081858
  72. rs7944584 at chr11:47292896 in MADD
    Phenotype : In a meta-analysis of 21 GWAS cohorts followed by analysis in additional individuals, this SNP was found to be associated with fasting glucose level. Study size: 118,741. Significance metric(s): p = 2.0 x 10(-18). Study population/ethnicity: Non-diabetic Individuals of European descent. Type of association: CO;GN.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:20081858
  73. rs174550 at chr11:61328054 in FADS1
    Phenotype 1: In a meta-analysis of 21 GWAS cohorts followed by analysis in additional individuals, this SNP was found to be associated with fasting glucose level. Study size: 118,908. Significance metric(s): p = 1.7 x 10(-15). Phenotype 2: In the same study, this SNP was found to be associated with HOMA-B (homeostasis model assessment of beta-cell function). Study size: 94,536. Significance metric(s): p = 5.2 x 10(-13). Study population/ethnicity: Non-diabetic Individuals of European descent. Type of association: CO;GN.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:20081858
  74. rs10830963 at chr11:92348358 in MTNR1B
    Phenotype 1: In a meta-analysis of 21 GWAS cohorts followed by analysis in additional individuals, this SNP was found to be associated with fasting glucose level. Study size: 112,844. Significance metric(s): p = 5.8 x 10(-175). Phenotype 2: In the same study, this SNP was found to be associated with HOMA-B (homeostasis model assessment of beta-cell function). Study size: 90,364. Significance metric(s): p = 2.7 x 10(-43). Study population/ethnicity: Non-diabetic Individuals of European descent. Type of association: CO;GN.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:20081858
  75. rs5443 at chr12:6825136 in GNB3, USP5
    Risk or phenotype-associated allele: T. Phenotype: Among GNB3 T allele carriers, the risk of diabetes due to thiazide use was less increased than among homozygous GNB3 CC subjects . Study size: 497 incident cases of type 2 diabetes and 2,633 controls. metric(s): (SI 0.62 (95% CI: 0.41-0.93). Type of association: GN.
    Related Drugs:
    thiazide derivatives
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:19247266
  76. rs35767 at chr12:101399699 in IGF1
    Phenotype 1: In a meta-analysis of 21 GWAS cohorts followed by analysis in additional individuals, this SNP was found to be associated with fasting insulin level. Study size: 94,590. Significance metric(s): p = 3.3 x 10(-8). Phenotype 2: In a meta-analysis of 21 GWAS cohorts followed by analysis in additional individuals, this SNP was found to be associated with HOMA-IR (homeostasis model assessment of insulin resistance). Study size: 93,141. Significance metric(s): p = 2.2 x 10(-9). Study population/ethnicity: Non-diabetic Individuals of European descent. Type of association: CO;GN.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:20081858
  77. rs17271305 at chr15:60120272 in VPS13C
    Risk or phenotype-associated allele: G . Phenotype: In a meta-analysis of nine genome-wide association studies (n = 15,234 nondiabetic individuals) and a follow-up of 29 independent loci (n = 6,958-30,620), this SNP was found to be associated with 2-h glucose level (a clinical measure of glucose tolerance). Effect (s.e.m.) = 0.06(0.01) mmol/l per G allele. Study size/population/ethnicity: 15,234 plus 6,958-30,620 nondiabetic individuals of European descent. Significance metric(s): p = 4.11 x 10(-8). Type of association: CO;GN.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:20081857
  78. rs11071657 at chr15:60221254
    Phenotype : In a meta-analysis of 21 GWAS cohorts followed by analysis in additional individuals, this SNP was found to be associated with fasting glucose level. Study size: 114,454. Significance metric(s): p = 3.6 x 10(-8). Study population/ethnicity: Non-diabetic Individuals of European descent. Type of association: CO;GN.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:20081858
  79. rs34241435 at chr16:23220686 in SCNN1B
    A study in 207 Caucasian participants receiving farglitazar plus insulin or glyburide combination therapies this polymorphism in the SCNN1B gene was significantly associated with oedema. This variant in the promoter region of the gene was predicted to modify transcriptional interactions and in a transfected COS cell luciferase reporter gene assay exhibited higher promoter activity. The identified association has low penetrance in the fluid retention/oedema case population reflecting that SCNN1B variation may be only one of the covariates that contribute to the development of PPAR[gamma]-induced fluid retention.
    Related Drugs:
    glibenclamide, insulin-glargine
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:18004211
  80. rs889299 at chr16:23289415 in SCNN1B
    This variant in the SCNN1B gene showed the most significant association with fluid retention/oedema in participants diagnosed with T2DM receiving farglitazar plus insulin or glyburide combination therapies. But this association has low penetrance in the fluid retention/oedema case population reflecting that SCNN1B variation may be only one of the covariates that contribute to the development of PPAR[gamma]-induced fluid retention.
    Related Drugs:
    glibenclamide, insulin-glargine
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:18004211
  81. rs8050136 at chr16:52373776 in FTO
    rs8050136 is associated with susceptibility to Type 2 Diabetes. This association was identified in a UK case-control study and was replicated in another UK case-control cohort.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463249
  82. rs8050136 at chr16:52373776 in FTO
    In a large Finnish case-control GWAS, rs8050136 was found to be associated with susceptibility to Type 2 Diabetes.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463248
  83. rs9939609 at chr16:52378028 in FTO
    SNP in the FTO gene region is strongly associated with type 2 diabetes. This association was replicated by analyzing the SNP in a further 3757 type 2 diabetes cases and 5346 controls.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:17434869
  84. rs9939609 at chr16:52378028 in FTO
    Risk or phenotype-associated allele: rs9939609 A allele. Phenotype: In studies of 3,856 type 2 diabetic case subjects and 4,861 normal glucose-tolerant control subjects, the minor A-allele of rs9939609 associated with type 2 diabetes (OR = 1.13, 95% CI 1.06-1.20, p = 9 × 10−5), which was abolished when adjusting for BMI (OR = 1.06, CI = 0.97-1.16, p = 0.2). The FTO rs9939609 genotype was influenced by the habitual level of physical activity in a population-based study of 5,722 treatment-naive Danish. Physical inactivity was associated with a BMI increase of 1.95 ± 0.33 kg/m2 in FTO rs9939609 AA genotype carriers, whereas no major effect of sedentary lifestyle was found comparing TT and TA genotypes. Among 17,162 middle-aged Danes, the A-allele associated with overweight (OR = 1.19, CI = 1.13-1.24, p = 1 x 10(-12)) and obesity (OR = 1.27, CI = 1.20-1.34, p = 2 x 10(-16)). Body weight, waist circumference, fat mass, and fasting serum leptin levels were significantly elevated in A-allele carriers. An interaction between the FTO rs9939609 genotype and physical activity (p = 0.007) was found, where physically inactive homozygous risk A-allele carriers had an 1.95 +/- 0.3 kg/m(2) increase in BMI relative to TT genotype carriers. Interaction between the FTO rs9939609 genotype and physical activity (P = 0.007) was observed, where physically inactive homozygous risk A-allele carriers had a 1.95 ± 0.3 kg/m2 increase in BMI compared with TT genotype carriers. Study size: Subsets of 17,508. Study population/ethnicity: Anglo-Danish-Dutch. Significance metric(s): OR = (1.06-1.27). Type of association: GN; CO; PD.
    Variant Name:
    FTO:c.46-23525A>T
    Related Diseases:
    diabetes mellitus type 2 and obesity, Diabetes Mellitus, Type 2, Obesity
    Evidence:
    PMID:17942823
  85. rs4430796 at chr17:33172153 in HNF1B
    The A allele of rs4430796 contributes to the risk of prostate cancer in four populations of European descent and has a protective affect against Type 2 Diabetes.
    Related Diseases:
    Diabetes Mellitus, Type 2, Prostatic Neoplasms
    Evidence:
    PMID:17603485
  86. rs4341 at chr17:58919722 in ACE
    Risk or phenotype-associated allele: GG. Phenotype:Increased risk of diabetes associated with thiazide use, this risk was more increased for ACE GG subjects Study size: 497 incident cases of type 2 diabetes and 2,633 controls. metric(s): SI 1.70 (95% CI: 1.08-2.66). Type of association: GN.
    Related Drugs:
    thiazide derivatives
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:19247266
  87. rs10423928 at chr19:50874144 in GIPR
    Risk or phenotype-associated allele: A . Phenotype 1: In a meta-analysis of nine genome-wide association studies (n = 15,234 nondiabetic individuals) and a follow-up of 29 independent loci (n = 6,958-30,620), this SNP was found to be associated with 2-h glucose level (a clinical measure of glucose tolerance). Effect (s.e.m.) = 0.09(0.01) mmol/l per A allele. Study size/population/ethnicity: 15,234 plus 6,958-30,620 nondiabetic individuals of European descent. Significance metric(s): p = 1.98 x 10(-15). Phenotype 2: This SNP was also found to be associated with decreased insulin secretion. Effect(BMI adjusted) (s.e.m.) on Insulinogenic index = - 0.076(0.009) microUnits/mmol per A allele. Study size/population/ethnicity: > 22,000 nondiabetic individuals of European descent. Significance metric(s): p(BMI-adj) = 1.00x 10(-17). Phenotype 3: This SNP was also found to be associated with AUC insulin/glucose (another measure of insulin response during an oral glucose tolerance test). Effect(BMI adjusted) (s.e.m.) on AUC for insulin/glucose = - 0.051(0.007) pmol/mmol per A allele. Study size/population/ethnicity: 22,209 nondiabetic individuals of European descent. Significance metric(s): p(BMI adj) = 9.50 x 10(-17). Type of association: CO;GN.
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:20081857
  88. rs2295490 at chr20:316905 in TRIB3
    This variant in the TRIB3 gene is associated with early-onset T2D in Whites. This Q84R "gain of function" polymorphism, impairs insulin signaling.
    Variant Name:
    TRIB3: Q84R
    Related Diseases:
    Diabetes Mellitus, Type 2
    Evidence:
    PMID:18984671

Non-Curated Annotations (Non-Curated Annotation)

  1. rs7578597 at chr2:43586327 in THADA
    GWAS Results: Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes (Initial Sample Size: 4,549 cases, 5,579 controls; Replication Sample Size: 24,194 cases, 55,598 controls; Risk Allele: rs7578597-T).
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:18372903
    http://www.genome.gov/gwastudies/
  2. rs6712932 at chr2:105204030
    GWAS results: Type 2 diabetes whole-genome association study in four populations: the DiaGen consortium. (Initial Sample Size: 500 cases, 497 controls; Replication Sample Size: 2,573 cases, 2,776 controls); (Region: 2q12.1; Reported Gene(s): Intergenic; Risk Allele: rs6712932-?); (p-value= 0.000006).This variant is associated with Type 2 diabetes.
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:17668382
    http://www.genome.gov/gwastudies/
  3. rs358806 at chr3:55288440
    GWAS results: Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls (Initial Sample Size: 1,924 cases, 2,938 controls; Replication Sample Size: (see Zeggini 2007)). This variant is associated with Type 2 diabetes.
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:17554300
    http://www.genome.gov/gwastudies/
  4. rs4607103 at chr3:64686944
    GWAS Results: Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes (Initial Sample Size: 4,549 cases, 5,579 controls; Replication Sample Size: 24,194 cases, 55,598 controls; Risk Allele: rs4607103-C).
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:18372903
    http://www.genome.gov/gwastudies/
  5. rs4402960 at chr3:186994381 in IGF2BP2
    GWAS Results: Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels (Initial Sample Size: 1,464 cases, 1,467 controls; Replication Sample Size: 5,065 cases, 5,785 controls; Risk Allele: rs4402960-T).
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463246
    http://www.genome.gov/gwastudies/
  6. rs4402960 at chr3:186994381 in IGF2BP2
    GWAS Results: A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants (Initial Sample Size: 1,161 cases, 1,174 controls; Replication Sample Size: 1,215 cases, 1,258 controls; Risk Allele: rs4402960-T).
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463248
    http://www.genome.gov/gwastudies/
  7. rs4402960 at chr3:186994381 in IGF2BP2
    GWAS Results: Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes (Initial Sample Size: 1,924 cases, 2,938 controls; Replication Sample Size: 3,757 cases, 5,346 controls; Risk Allele: rs4402960-T).
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463249
    http://www.genome.gov/gwastudies/
  8. rs6769511 at chr3:187012984 in IGF2BP2
    GWAS results: SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations. (Initial Sample Size: 194 Japanese cases, 1,558 Japanese controls; Replication Sample Size: 4,924 cases, 2,618 controls (Japanese), 1433 cases, 1,735 controls (Singaporean), 3,891 cases, 4,888 controls (Danish)); (Region: 3q27.2; Reported Gene(s): IGF2BP2; Risk Allele: rs6769511-C); (p-value= 0.000000001).This variant is associated with Type 2 diabetes.
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:18711366
    http://www.genome.gov/gwastudies/
  9. rs4712524 at chr6:20765844 in CDKAL1
    GWAS results: SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations. (Initial Sample Size: 194 Japanese cases, 1,558 Japanese controls; Replication Sample Size: 4,924 cases, 2,618 controls (Japanese), 1433 cases, 1,735 controls (Singaporean), 3,891 cases, 4,888 controls (Danish)); (Region: 6p22.3; Reported Gene(s): CDKAL1; Risk Allele: rs4712524-G); (p-value= 0.0000000003).This variant is associated with Type 2 diabetes.
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:18711366
    http://www.genome.gov/gwastudies/
  10. rs10946398 at chr6:20769013 in CDKAL1
    GWAS Results: Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes (Initial Sample Size: 1,924 cases, 2,938 controls; Replication Sample Size: 3,757 cases, 5,346 controls; Risk Allele: rs10946398-C).
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463249
    http://www.genome.gov/gwastudies/
  11. rs10946398 at chr6:20769013 in CDKAL1
    GWAS results: Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome wide association data. (Initial Sample Size: 1,924 cases, 2,938 controls; Replication Sample Size: 3,757 cases, 5,346 controls); (Region: 6p22.3; Reported Gene(s): CDKAL; Risk Allele: rs10946398-?); (p-value= 0.0000007).This variant is associated with Type 2 diabetes.
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:19056611
    http://www.genome.gov/gwastudies/
  12. rs7754840 at chr6:20769229 in CDKAL1
    GWAS Results: Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels (Initial Sample Size: 1,464 cases, 1,467 controls; Replication Sample Size: 5,065 cases, 5,785 controls; Risk Allele: rs7754840-C).
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463246
    http://www.genome.gov/gwastudies/
  13. rs7754840 at chr6:20769229 in CDKAL1
    GWAS Results: A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants (Initial Sample Size: 1,161 cases, 1,174 controls; Replication Sample Size: 1,215 cases, 1,258 controls; Risk Allele: rs7754840-C).
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463248
    http://www.genome.gov/gwastudies/
  14. rs7756992 at chr6:20787688 in CDKAL1
    GWAS Results: A variant in CDKAL1 influences insulin response and risk of type 2 diabetes (Initial Sample Size: 1,399 EA cases, 5,275 EA controls; Replication Sample Size: 2,437 EA cases, 7,287 EA controls; Risk Allele: rs7756992-G).
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:17460697
    http://www.genome.gov/gwastudies/
  15. rs9465871 at chr6:20825234 in CDKAL1
    GWAS Results: Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls (Initial Sample Size: 1,924 cases, 2,938 controls; Replication Sample Size: (see Zeggini 2007); Risk Allele: rs9465871-C). This variant is associated with type 2 diabetes.
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:17554300
    http://www.genome.gov/gwastudies/
  16. rs864745 at chr7:28147081 in JAZF1
    GWAS Results: Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes (Initial Sample Size: 4,549 cases, 5,579 controls; Replication Sample Size: 24,194 cases, 55,598 controls; Risk Allele: rs864745-T).
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:18372903
    http://www.genome.gov/gwastudies/
  17. rs13266634 at chr8:118253964 in SLC30A8
    GWAS Results: A genome-wide association study identifies novel risk loci for type 2 diabetes (Initial Sample Size: 1,380 cases, 1,323 controls; Replication Sample Size: 2,617 cases, 2,894 controls; Risk Allele: rs13266634-C).
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:17293876
    http://www.genome.gov/gwastudies/
  18. rs13266634 at chr8:118253964 in SLC30A8
    GWAS results: Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome wide association data. (Initial Sample Size: 1,924 cases, 2,938 controls; Replication Sample Size: 3,757 cases, 5,346 controls); (Region: 8q24.11; Reported Gene(s): SLC30A8; Risk Allele: rs13266634-?); (p-value= 0.000007).This variant is associated with Type 2 diabetes.
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:19056611
    http://www.genome.gov/gwastudies/
  19. rs10811661 at chr9:22124094
    GWAS Results: Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels (Initial Sample Size: 1,464 cases, 1,467 controls; Replication Sample Size: 5,065 cases, 5,785 controls; Risk Allele: rs10811661-T).
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463246
    http://www.genome.gov/gwastudies/
  20. rs10811661 at chr9:22124094
    GWAS Results: A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants (Initial Sample Size: 1,161 cases, 1,174 controls; Replication Sample Size: 1,215 cases, 1,258 controls; Risk Allele: rs10811661-T).
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463248
    http://www.genome.gov/gwastudies/
  21. rs10811661 at chr9:22124094
    GWAS Results: Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes (Initial Sample Size: 1,924 cases, 2,938 controls; Replication Sample Size: 3,757 cases, 5,346 controls; Risk Allele: rs10811661-T).
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463249
    http://www.genome.gov/gwastudies/
  22. rs10811661 at chr9:22124094
    GWAS results: Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome wide association data. (Initial Sample Size: 1,924 cases, 2,938 controls; Replication Sample Size: 3,757 cases, 5,346 controls); (Region: 9p21.3; Reported Gene(s): CDKN2B; Risk Allele: rs10811661-?); (p-value= 0.0000007).This variant is associated with Type 2 diabetes.
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:19056611
    http://www.genome.gov/gwastudies/
  23. rs12779790 at chr10:12368016
    GWAS Results: Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes (Initial Sample Size: 4,549 cases, 5,579 controls; Replication Sample Size: 24,194 cases, 55,598 controls; Risk Allele: rs12779790-G).
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:18372903
    http://www.genome.gov/gwastudies/
  24. rs1111875 at chr10:94452862
    GWAS Results: A genome-wide association study identifies novel risk loci for type 2 diabetes (Initial Sample Size: 1,380 cases, 1,323 controls; Replication Sample Size: 2,617 cases, 2,894 controls; Risk Allele: rs1111875-G).
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:17293876
    http://www.genome.gov/gwastudies/
  25. rs5015480 at chr10:94455539
    GWAS Results: Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes (Initial Sample Size: 1,924 cases, 2,938 controls; Replication Sample Size: 3,757 cases, 5,346 controls; Risk Allele: rs5015480-C).
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463249
    http://www.genome.gov/gwastudies/
  26. rs7903146 at chr10:114748339 in TCF7L2
    GWAS results: Type 2 diabetes whole-genome association study in four populations: the DiaGen consortium. (Initial Sample Size: 500 cases, 497 controls; Replication Sample Size: 2,573 cases, 2,776 controls); (Region: 10q25.2; Reported Gene(s): TCF7L2; Risk Allele: rs7903146-A); (p-value= 4.99999999999999E-08).This variant is associated with Type 2 diabetes.
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:17668382
    http://www.genome.gov/gwastudies/
  27. rs7903146 at chr10:114748339 in TCF7L2
    GWAS results: Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome wide association data. (Initial Sample Size: 1,924 cases, 2,938 controls; Replication Sample Size: 3,757 cases, 5,346 controls); (Region: 10q25.2; Reported Gene(s): TCF7L2; Risk Allele: rs7903146-?); (p-value(obese)= 0.0000000000000006).This variant is associated with Type 2 diabetes.
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:19056611
    http://www.genome.gov/gwastudies/
  28. rs7903146 at chr10:114748339 in TCF7L2
    GWAS results: Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome wide association data. (Initial Sample Size: 1,924 cases, 2,938 controls; Replication Sample Size: 3,757 cases, 5,346 controls); (Region: 10q25.2; Reported Gene(s): TCF7L2; Risk Allele: rs7903146-?); (p-value(non-obese)= 9E-30).This variant is associated with Type 2 diabetes.
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:19056611
    http://www.genome.gov/gwastudies/
  29. rs2237892 at chr11:2796327 in KCNQ1
    GWAS results: Variants in KCNQ1 are associated with susceptibility to type 2 diabetes mellitus. (Initial Sample Size: 187 Japanese cases, 1,504 Japanese controls; Replication Sample Size: 6,552 Asian cases, 6,621 Asian controls, 2,830 cases, 3,740 controls (Swedish)); (Region: 11p15.5; Reported Gene(s): KCNQ1; Risk Allele: rs2237892-C); (p-value= 2E-42).This variant is associated with Type 2 diabetes.
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:18711367
    http://www.genome.gov/gwastudies/
  30. rs2237897 at chr11:2815122 in KCNQ1
    GWAS results: SNPs in KCNQ1 are associated with susceptibility to type 2 diabetes in East Asian and European populations. (Initial Sample Size: 194 Japanese cases, 1,558 Japanese controls; Replication Sample Size: 4,924 cases, 2,618 controls (Japanese), 1433 cases, 1,735 controls (Singaporean), 3,891 cases, 4,888 controls (Danish)); (Region: 11p15.4; Reported Gene(s): KCNQ1; Risk Allele: rs2237897-C); (p-value= 0.0000000000000001).This variant is associated with Type 2 diabetes.
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:18711366
    http://www.genome.gov/gwastudies/
  31. rs5219 at chr11:17366148 in KCNJ11
    GWAS results: Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome wide association data. (Initial Sample Size: 1,924 cases, 2,938 controls; Replication Sample Size: 3,757 cases, 5,346 controls); (Region: 11p15.1; Reported Gene(s): KCNJ11; Risk Allele: rs5219-?); (p-value(obese) = 0.0000005).This variant is associated with Type 2 diabetes.
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:19056611
    http://www.genome.gov/gwastudies/
  32. rs5219 at chr11:17366148 in KCNJ11
    GWAS results: Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome wide association data. (Initial Sample Size: 1,924 cases, 2,938 controls; Replication Sample Size: 3,757 cases, 5,346 controls); (Region: 11p15.1; Reported Gene(s): KCNJ11; Risk Allele: rs5219-?); (p-value(non-obese)= 0.000000001).This variant is associated with Type 2 diabetes.
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:19056611
    http://www.genome.gov/gwastudies/
  33. rs9300039 at chr11:41871942
    GWAS Results: A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants (Initial Sample Size: 1,161 cases, 1,174 controls; Replication Sample Size: 1,215 cases, 1,258 controls; Risk Allele: rs9300039-C).
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463248
    http://www.genome.gov/gwastudies/
  34. rs12304921 at chr12:49643809
    GWAS Results: Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls (Initial Sample Size: 1,924 cases, 2,938 controls; Replication Sample Size: (see Zeggini 2007); Risk Allele: rs12304921-G). This variant is associated with type 2 diabetes.
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:17554300
    http://www.genome.gov/gwastudies/
  35. rs1495377 at chr12:69863368
    GWAS Results: Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls (Initial Sample Size: 1,924 cases, 2,938 controls; Replication Sample Size: (see Zeggini 2007); Risk Allele: rs1495377-G). This variant is associated with type 2 diabetes.
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:17554300
    http://www.genome.gov/gwastudies/
  36. rs7961581 at chr12:69949369
    GWAS Results: Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes (Initial Sample Size: 4,549 cases, 5,579 controls; Replication Sample Size: 24,194 cases, 55,598 controls; Risk Allele: rs7961581-C).
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:18372903
    http://www.genome.gov/gwastudies/
  37. rs8050136 at chr16:52373776 in FTO
    GWAS Results: Replication of genome-wide association signals in UK samples reveals risk loci for type 2 diabetes (Initial Sample Size: 1,924 cases, 2,938 controls; Replication Sample Size: 3,757 cases, 5,346 controls; Risk Allele: rs8050136-A).
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:17463249
    http://www.genome.gov/gwastudies/
  38. rs8050136 at chr16:52373776 in FTO
    GWAS results: Adiposity-related heterogeneity in patterns of type 2 diabetes susceptibility observed in genome wide association data. (Initial Sample Size: 1,924 cases, 2,938 controls; Replication Sample Size: 3,757 cases, 5,346 controls); (Region: 16q12.2; Reported Gene(s): FTO; Risk Allele: rs8050136-?); (p-value= 0.00000000000000002).This variant is associated with Type 2 diabetes.
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:19056611
    http://www.genome.gov/gwastudies/
  39. rs9939609 at chr16:52378028 in FTO
    GWAS Results: Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls (Initial Sample Size: 1,924 cases, 2,938 controls; Replication Sample Size: (see Zeggini 2007); Risk Allele: rs9939609-A). This variant is associated with type 2 diabetes.
    Related Diseases:
    Diabetes Mellitus, Diabetes Mellitus, Type 2
    Evidence:
    PMID:17554300
    http://www.genome.gov/gwastudies/
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
No phenotype data Genotype Data Available Literature annotations available Not annotated
ABCA1
  • CO
  • PD
  •   
  •   
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Has annotations
ABCB1
  •   
  •   
  • PK
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
ABCC1
  •   
  •   
  • PK
  • FA
  •   
Publications
No phenotype data Genotype Data Available Literature annotations available Not annotated
ABCC8
  •   
  •   
  •   
  •   
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
ABCG2
  •   
  •   
  • PK
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
ABL1
  • CO
  • PD
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
ACACA
  •   
  • PD
  •   
  • FA
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Has annotations
ACE
  •   
  • PD
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
ADCY5
  • CO
  •   
  •   
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
ADIPOQ
  • CO
  • PD
  • PK
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
ADIPOR1
  •   
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
ADIPOR2
  •   
  • PD
  •   
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
ADORA1
  •   
  •   
  •   
  •   
  • GN
Publications
No phenotype data Genotype Data Available Literature annotations available Not annotated
ADRA2A
  • CO
  • PD
  •   
  • FA
  • GN
Publications, Variants
Phenotype data available Genotype Data Available Literature annotations available Has annotations
ADRB1
  • CO
  •   
  •   
  •   
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Has annotations
ADRB2
  • CO
  •   
  •   
  •   
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
ADRB3
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
AHI1
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
AHSG
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
ALX4
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
APOE
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data Genotype Data Available Literature annotations available Not annotated
APOH
  •   
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
ARNT
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data Genotype Data Available Literature annotations available Not annotated
BDKRB2
  •   
  • PD
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
C6orf217
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
CAPN10
  •   
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
CCKBR
  •   
  •   
  •   
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
CDKAL1
  • CO
  •   
  •   
  •   
  • GN
Publications, Variants
Phenotype data available No genotype data Literature annotations available Not annotated
CDKN2A
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
CDKN2B
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
CDKN2BAS
  •   
  •   
  •   
  •   
  •   
Variants
No phenotype data No genotype data Literature annotations available Not annotated
CISD1
  •   
  • PD
  •   
  • FA
  •   
Publications
No phenotype data Genotype Data Available Literature annotations available Not annotated
CRP
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
CRY2
  • CO
  •   
  •   
  • FA
  • GN
Publications, Variants
No phenotype data Genotype Data Available Literature annotations available Not annotated
CYP1A2
  •   
  •   
  • PK
  • FA
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
CYP2C8
  •   
  •   
  • PK
  • FA
  • GN
Publications, Variants
Phenotype data available Genotype Data Available Literature annotations available Has annotations
CYP2C9
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Variants
Phenotype data available Genotype Data Available Literature annotations available Has annotations
CYP2D6
  •   
  •   
  • PK
  • FA
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Has annotations
CYP3A4
  •   
  •   
  • PK
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
DGKB
  • CO
  •   
  •   
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
ENPP1
  • CO
  •   
  •   
  •   
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
ESR1
  •   
  •   
  •   
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
EXT2
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
FADS1
  • CO
  •   
  •   
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
FAM148B
  • CO
  •   
  •   
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
FTO
  • CO
  •   
  •   
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
G6PC2
  • CO
  •   
  •   
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
GCG
  •   
  • PD
  • PK
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
GCK
  • CO
  •   
  •   
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
GCKR
  • CO
  •   
  •   
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
GIPR
  • CO
  •   
  •   
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
GLIS3
  • CO
  •   
  •   
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
GLP1R
  • CO
  • PD
  • PK
  • FA
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
GSTM1
  • CO
  •   
  •   
  •   
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
GSTT1
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
GYS1
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
HBA1
  •   
  • PD
  •   
  •   
  • GN
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
HHEX
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
HNF1B
  • CO
  •   
  •   
  •   
  • GN
Publications, Variants
No phenotype data Genotype Data Available Literature annotations available Not annotated
HTR2C
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
IDE
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
IGF1
  • CO
  •   
  •   
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
IGF2BP2
  • CO
  •   
  •   
  •   
  • GN
Publications, Variants
No phenotype data Genotype Data Available Literature annotations available Not annotated
IL6
  •   
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
IRS1
  •   
  • PD
  •   
  •   
  • GN
Publications
No phenotype data Genotype Data Available Literature annotations available Has annotations
KCNJ11
  • CO
  • PD
  • PK
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
KIF11
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
LPIN1
  • CO
  • PD
  •   
  •   
  • GN
Publications, Variants
Phenotype data available No genotype data Literature annotations available Not annotated
LPL
  • CO
  • PD
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
MADD
  • CO
  •   
  •   
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
MGAT4A
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
MTNR1B
  • CO
  •   
  •   
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
MYO10
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
NAMPT
  •   
  • PD
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
NDUFA1
  •   
  • PD
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
NDUFA11
  •   
  • PD
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
NDUFA2
  •   
  • PD
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
NDUFAB1
  •   
  • PD
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
NDUFB4
  •   
  • PD
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
NDUFS1
  •   
  • PD
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
NDUFS2
  •   
  • PD
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
NDUFS4
  •   
  • PD
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
NDUFS6
  •   
  • PD
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
NDUFV1
  •   
  • PD
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
NOTCH2
  •   
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
NPPB
  •   
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
NT5E
  •   
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
PKM2
  •   
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
PKN2
  • CO
  •   
  •   
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
PLIN
  • CO
  • PD
  •   
  •   
  • GN
Publications
No phenotype data Genotype Data Available Literature annotations available Not annotated
PPARA
  •   
  • PD
  •   
  •   
  • GN
Publications
No phenotype data Genotype Data Available Literature annotations available Not annotated
PPARG
  • CO
  • PD
  • PK
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
PPARGC1A
  •   
  • PD
  •   
  • FA
  •   
Publications
Phenotype data available No genotype data Literature annotations available Not annotated
PPAT
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
PRKAA1
  • CO
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
PRKAA2
  • CO
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
PRKAB1
  • CO
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
PRKAB2
  • CO
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
PRKAG1
  • CO
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
PRKAG2
  • CO
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
PROX1
  • CO
  •   
  •   
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
RBP4
  •   
  • PD
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
RETN
  •   
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
RFWD2
  •   
  •   
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
SCNN1B
  •   
  • PD
  •   
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
SHBG
  •   
  •   
  •   
  •   
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
SLC22A1
  • CO
  • PD
  • PK
  • FA
  • GN
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
SLC22A2
  • CO
  •   
  • PK
  •   
  • GN
Publications
No phenotype data Genotype Data Available Literature annotations available Not annotated
SLC22A3
  •   
  •   
  • PK
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
SLC29A4
  •   
  •   
  • PK
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
SLC2A2
  • CO
  •   
  •   
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
SLC30A8
  • CO
  •   
  •   
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
SLC47A1
  • CO
  •   
  • PK
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
SMC3
  •   
  •   
  •   
  •   
  •   
Variants
No phenotype data No genotype data Literature annotations available Not annotated
SOCS3
  •   
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
SREBF1
  •   
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
STK11
  • CO
  • PD
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
STK32C
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
TCF7L2
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
TMEM195
  • CO
  •   
  •   
  • FA
  • GN
Publications
No phenotype data Genotype Data Available Literature annotations available Not annotated
TNF
  •   
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
TRIB3
  •   
  •   
  •   
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
TTC7B
  • CO
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
UCP2
  •   
  •   
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
VPS13C
  • CO
  •   
  •   
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
WFS1
  • CO
  •   
  •   
  •   
  • GN
Publications, Variants
No phenotype data No genotype data No literature annotations Not annotated
YKT6
  •   
  •   
  •   
  •   
  •   
Variants

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
Ace Inhibitors, Plain
  •   
  • PD
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
meglitinides
  •   
  •   
  • PK
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
sulfonamides, urea derivatives
  • CO
  • PD
  • PK
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
thiazolidinediones
  •   
  • PD
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
xenobiotics
  •   
  •   
  •   
  • FA
  • GN
Publications
  Drug Relationship Evidence
No phenotype data No genotype data Literature annotations available Not annotated
aliskiren
  • CO
  •   
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
benazepril
  •   
  • PD
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
clonidine
  •   
  • PD
  •   
  • FA
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
exenatide
  • CO
  • PD
  • PK
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
fenofibrate
  •   
  • PD
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
glibenclamide
  •   
  • PD
  • PK
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
gliclazide
  • CO
  • PD
  •   
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
glimepiride
  • CO
  •   
  • PK
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
imatinib
  • CO
  • PD
  •   
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
insulin recombinant
  •   
  • PD
  • PK
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
insulin-glargine
  •   
  • PD
  •   
  •   
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
losartan
  • CO
  •   
  •   
  •   
  •   
Publications
Phenotype data available Genotype Data Available Literature annotations available Not annotated
metformin
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
perindopril
  •   
  • PD
  •   
  •   
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
pioglitazone
  • CO
  • PD
  • PK
  • FA
  • GN
Publications
No phenotype data No genotype data Literature annotations available Not annotated
repaglinide
  •   
  • PD
  • PK
  •   
  •   
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
rosiglitazone
  • CO
  • PD
  • PK
  • FA
  • GN
Publications, Variants
No phenotype data No genotype data Literature annotations available Not annotated
tolbutamide
  •   
  • PD
  • PK
  •   
  •   
Publications
No phenotype data No genotype data Literature annotations available Not annotated
troglitazone
  • CO
  •   
  •   
  •   
  • GN
Publications, Variants
Phenotype data available Genotype Data Available Literature annotations available Not annotated
yohimbine
  •   
  • PD
  •   
  • FA
  •   
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.

Common Searches

Search Medline Plus
Search CTD

Non-Curated Publications

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

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