IRS1, insulin receptor substrate 1, 3667

N. diseases: 233; N. variants: 15
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs104893642
rs104893642
Entrez Id: 3667
Gene Symbol: IRS1
IRS1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.710 GeneticVariation BEFREE A novel T608R missense mutation in insulin receptor substrate-1 identified in a subject with type 2 diabetes impairs metabolic insulin signaling. 12679424 2003
dbSNP: rs104893642
rs104893642
Entrez Id: 3667
Gene Symbol: IRS1
IRS1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
C 0.710 CausalMutation CLINVAR
dbSNP: rs142101835
rs142101835
Entrez Id: 3667
Gene Symbol: IRS1
IRS1
CUI: C0518026
Disease:
body fat percentage (physical finding)
G 0.700 GeneticVariation GWASCAT Exploration of haplotype research consortium imputation for genome-wide association studies in 20,032 Generation Scotland participants. 28270201 2017
dbSNP: rs2229613
rs2229613
Entrez Id: 3667
Gene Symbol: IRS1
IRS1
CUI: C1445957
Disease:
Serum total cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs2229613
rs2229613
Entrez Id: 3667
Gene Symbol: IRS1
IRS1
CUI: C0428474
Disease:
Serum LDL cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs2229613
rs2229613
Entrez Id: 3667
Gene Symbol: IRS1
IRS1
CUI: C0202117
Disease:
Low density lipoprotein cholesterol measurement
0.700 GeneticVariation GWASDB Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci. 23063622 2012
dbSNP: rs1259467443
rs1259467443
Entrez Id: 3667
Gene Symbol: IRS1
IRS1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
T 0.700 CausalMutation CLINVAR
dbSNP: rs1801278
rs1801278
Entrez Id: 3667
Gene Symbol: IRS1
IRS1
CUI: C1852091
Disease:
INSULIN RESISTANCE, SUSCEPTIBILITY TO
T 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs1801278
rs1801278
Entrez Id: 3667
Gene Symbol: IRS1
IRS1
CUI: C1840169
Disease:
CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO
T 0.700 SusceptibilityMutation CLINVAR
dbSNP: rs1801278
rs1801278
Entrez Id: 3667
Gene Symbol: IRS1
IRS1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE The results showed a significant difference in the genotype distribution and allele frequency between the T2DM cases and controls for single nucleotide polymorphism (SNP) rs1801278 (OR 17.61, 95% CI 8.06-38.4, p < 0.001). 31446532 2019
dbSNP: rs1801278
rs1801278
Entrez Id: 3667
Gene Symbol: IRS1
IRS1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE In all, though further studies are needed for confirming this finding, our present data point to IRS1 rs1801278 as a potential biomarker for pursuing the goal of stratified medicine in the field of antihyperglycemic treatment in T2D. 28696414 2018
dbSNP: rs1801278
rs1801278
Entrez Id: 3667
Gene Symbol: IRS1
IRS1
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.100 GeneticVariation BEFREE One hundred consecutive PCOS women (diagnosed by Rotterdam criteria) and 45 age-matched healthy women were genotyped for two polymorphisms: Gly972Arg of IRS-1 and Lys121Gln of PC-1. 27785750 2017
dbSNP: rs1801278
rs1801278
Entrez Id: 3667
Gene Symbol: IRS1
IRS1
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.100 GeneticVariation BEFREE Our findings suggest that IRS-1 Gly972Arg polymorphism is associated with PCOS in the Caucasian ethnicity, and IRS-2 Gly1057Asp polymorphism is correlated with PCOS in the Asian ethnicity. 27098445 2016
dbSNP: rs1801278
rs1801278
Entrez Id: 3667
Gene Symbol: IRS1
IRS1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE This meta-analysis suggests that rs1801278 may play a role in type 2 diabetes risk, especially in Asian. 26582067 2016
dbSNP: rs1801278
rs1801278
Entrez Id: 3667
Gene Symbol: IRS1
IRS1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE We failed to find any association between the IRS1 Gly972Arg polymorphism and T2DM. 26620983 2015
dbSNP: rs1801278
rs1801278
Entrez Id: 3667
Gene Symbol: IRS1
IRS1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE We replicated the significant association of rs1801278 and rs3792267 SNPs of the IRS1 and CAPN10 genes with T2DM in the population of Hyderabad. 24612564 2014
dbSNP: rs1801278
rs1801278
Entrez Id: 3667
Gene Symbol: IRS1
IRS1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE This study confirms in a large and ethnically homogeneous sample that IRS1 G972R polymorphism is associated with failure to OAD among patients with T2D. 24947357 2014
dbSNP: rs1801278
rs1801278
Entrez Id: 3667
Gene Symbol: IRS1
IRS1
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.100 GeneticVariation BEFREE We further investigated the effect of interaction of IRS-1 Gly972Arg and IRS-2 Gly1057Asp on the risk of PCOS and found that women carried IRS-1 Gly/Arg or IRS-2 Asp/Asp or carried both IRS-1 Gly/Arg and IRS-2 Asp/Asp had a much higher risk of PCOS compared with their counterpart, respectively (OR 2.49, 95% C.I. 25310961 2014
dbSNP: rs1801278
rs1801278
Entrez Id: 3667
Gene Symbol: IRS1
IRS1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE The PPARG Pro12 is associated with insulin resistance and this polymorphism interacts with IRS1 Gly972Arg, to increase the risk of T2DM in the mixed-ancestry population of South Africa. 24447396 2014
dbSNP: rs1801278
rs1801278
Entrez Id: 3667
Gene Symbol: IRS1
IRS1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE In conclusion, both the (rs1801278 and rs2943641) polymorphisms are associated with T2DM in the Saudi population. 24493031 2014
dbSNP: rs1801278
rs1801278
Entrez Id: 3667
Gene Symbol: IRS1
IRS1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE The IRS1 G972R polymorphism and glomerular filtration rate in patients with type 2 diabetes of European ancestry. 24071662 2013
dbSNP: rs1801278
rs1801278
Entrez Id: 3667
Gene Symbol: IRS1
IRS1
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.100 GeneticVariation BEFREE Our meta-analysis suggested that IRS-1 Gly972Arg polymorphism might be considered a significant risk for PCOS. 22523112 2012
dbSNP: rs1801278
rs1801278
Entrez Id: 3667
Gene Symbol: IRS1
IRS1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE Our findings revealed that IRS-1 Gly972Arg and IRS-2 Gly1057Asp polymorphisms are associated with T2DM in the Kurdish ethnic group. 22994406 2012
dbSNP: rs1801278
rs1801278
Entrez Id: 3667
Gene Symbol: IRS1
IRS1
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.100 GeneticVariation BEFREE Prevalence of the insulin receptor substrate-1(IRS-1) Gly972Arg and the insulin receptor substrate-2(IRS-2) Gly1057Asp polymorphisms in PCOS patients and non-diabetic healthy women. 22205343 2012
dbSNP: rs1801278
rs1801278
Entrez Id: 3667
Gene Symbol: IRS1
IRS1
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.100 GeneticVariation BEFREE Thus, our data suggest that the common T2D susceptibility polymorphism of TCF7L2 (rs7903146 C/T) gene, and the G972R polymorphism of the IRS1 gene, seem to predispose to GDM in Greek women. 20540670 2011