INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1799817
rs1799817
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.030 GeneticVariation BEFREE Association of GWAS identified INSR variants (rs2059807 & rs1799817) with polycystic ovarian syndrome in Indian women. 31837364 2020
dbSNP: rs1181860747
rs1181860747
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0028754
Disease:
Obesity
0.020 GeneticVariation BEFREE This meta-analysis suggested that D allele of G1057D polymorphism have a significant effect on reduced risk of T2DM, and obesity is a modifier of this association. 25959789 2015
dbSNP: rs1181860747
rs1181860747
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0028754
Disease:
Obesity
0.020 GeneticVariation BEFREE The effect of the Gly1057Asp mutation on type 2 diabetes and obesity was tested in a large cohort of Pima Indians (n = 998). 12765968 2003
dbSNP: rs1366600
rs1366600
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE Our result suggested that INSR rs1366</span>600, ACSL1 rs2292899 and FABP2 rs11724758 could influence the susceptibility to T2DM in Chinese Han population, most likely through their effects on the specific miRNA-binding sites and functional characterizations of three genes are needed. 23303383 2013
dbSNP: rs1366600
rs1366600
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE Our study showed that the miRNA binding site polymorphism rs1366600 located at the 3'-UTR region of the INSR gene is associated with increased risk of T2DM in Bangladeshi individuals. 29971619 2019
dbSNP: rs2059806
rs2059806
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE Combination analysis revealed that rs2059806 and rs7212142 had a combined effect on susceptibility to type 2 diabetes mellitus and diabetic nephropathy. 25867326 2015
dbSNP: rs2059806
rs2059806
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0025517
Disease:
Metabolic Diseases
0.020 GeneticVariation BEFREE The INSR rs2059806 SNP previously associated with adult vascular and metabolic diseases is also associated with SGA pregnancies. 26089371 2015
dbSNP: rs2059806
rs2059806
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0011860
Disease:
Diabetes Mellitus, Non-Insulin-Dependent
0.020 GeneticVariation BEFREE This study postulates that this reflects a common genetic cause, and investigates whether the INSR rs2059806 single nucleotide polymorphism (SNP) (a risk factor for essential hypertension, type 2 diabetes and metabolic syndrome) is also associated with pre-eclampsia. 28117222 2017
dbSNP: rs2059806
rs2059806
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0025517
Disease:
Metabolic Diseases
0.020 GeneticVariation BEFREE Thus, it was found that the INSR rs2059806 SNP is also associated with pre-eclampsia phenotypes in two independent cohorts suggesting that genetic susceptibility may be implicated in the link between pre-eclampsia and subsequent vascular and metabolic diseases. 28117222 2017
dbSNP: rs2252673
rs2252673
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.020 GeneticVariation BEFREE A weak association was detected in rs2252673 (P = 0.027), which indicated that INSR may confer an increased susceptibility to PCOS in Chinese. 24947064 2014
dbSNP: rs2252673
rs2252673
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.020 GeneticVariation BEFREE One INSR SNP (rs2252673) replicated association with PCOS. 21300347 2011
dbSNP: rs10500204
rs10500204
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C4520821
Disease:
Stage 0 Breast Cancer AJCC v6 and v7
0.010 GeneticVariation BEFREE Furthermore, INSR-rs10500204 was more strongly associated with the risk of BCIS than invasive disease in case-only analyses using the homozygous minor versus homozygous major model (OR<sub>hom</sub>  = 1.78, 95% CI = 1.30-2.44, P<sub>hom</sub>  = 3.23 × 10<sup>-4</sup> ). 29114882 2018
dbSNP: rs10500204
rs10500204
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0154084
Disease:
Stage 0 Breast Carcinoma
0.010 GeneticVariation BEFREE Furthermore, INSR-rs10500204 was more strongly associated with the risk of BCIS than invasive disease in case-only analyses using the homozygous minor versus homozygous major model (OR<sub>hom</sub>  = 1.78, 95% CI = 1.30-2.44, P<sub>hom</sub>  = 3.23 × 10<sup>-4</sup> ). 29114882 2018
dbSNP: rs10500204
rs10500204
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.010 GeneticVariation BEFREE Using the transmission disequilibrium test (TDT), we failed to find that rs1799817 (p = 0.486), rs2059807 (p = 0.195), rs8108622 (p = 0.866) and rs10500204 (p = 1.0) were significantly overtransmitted to PCOS offspring from their parents. 21645371 2011
dbSNP: rs1051690
rs1051690
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0024623
Disease:
Malignant neoplasm of stomach
0.010 GeneticVariation BEFREE <i>INSR</i> rs1051690 SNP is associated with increased risk of GC, while polymorphisms in <i>IL12B</i>, <i>CCND1</i> and <i>IL10</i> genes are not linked with the presence of GC. 28596683 2017
dbSNP: rs1051690
rs1051690
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0699791
Disease:
Stomach Carcinoma
0.010 GeneticVariation BEFREE <i>INSR</i> rs1051690 SNP is associated with increased risk of GC, while polymorphisms in <i>IL12B</i>, <i>CCND1</i> and <i>IL10</i> genes are not linked with the presence of GC. 28596683 2017
dbSNP: rs1051690
rs1051690
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE Polymorphisms affecting micro-RNA regulation and associated with the risk of dietary-related cancers: a review from the literature and new evidence for a functional role of rs17281995 (CD86) and rs1051690 (INSR), previously associated with colorectal cancer. 20971123 2011
dbSNP: rs1051690
rs1051690
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C4722085
Disease:
Malignant neoplasm of colon and/or rectum
0.010 GeneticVariation BEFREE Polymorphisms affecting micro-RNA regulation and associated with the risk of dietary-related cancers: a review from the literature and new evidence for a functional role of rs17281995 (CD86) and rs1051690 (INSR), previously associated with colorectal cancer. 20971123 2011
dbSNP: rs1052371
rs1052371
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0009402
Disease:
Colorectal Carcinoma
0.010 GeneticVariation BEFREE The associations of four single nucleotide polymorphisms (SNPs) in IGF-I (rs6214), IGFBP-3 (rs3110697), INSR (rs1052371), and IRS2 (rs2289046) genes with the risk of CRC were evaluated using a case-control design with 167 CRC cases and 277 controls by the PCR-RFLP method. 24175768 2013
dbSNP: rs1135401737
rs1135401737
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome
0.010 GeneticVariation BEFREE A patient with Donohue syndrome (DS) had a novel p.V657F mutation in the second fibronectin type III domain (FnIII-2), which contains the α-β cleavage site and part of the insulin-binding site. 28765322 2017
dbSNP: rs1181860747
rs1181860747
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C1956346
Disease:
Coronary Artery Disease
0.010 GeneticVariation BEFREE The concurrence of Gly1057Asp polymorphism in IRS-2 with DM is correlated with occurrence of CAD. 23216712 2012
dbSNP: rs1181860747
rs1181860747
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0010054
Disease:
Coronary Arteriosclerosis
0.010 GeneticVariation BEFREE Gly1057Asp polymorphism of insulin receptor substrate-2 is associated with coronary artery disease in the Taiwanese population. 23216712 2012
dbSNP: rs1181860747
rs1181860747
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0948379
Disease:
Impaired insulin secretion
0.010 GeneticVariation BEFREE The Gly1057Asp polymorphism was not associated with insulin resistance or impaired insulin secretion in Finnish subjects with normal glucose tolerance (n = 295) or impaired glucose tolerance (n = 38). 11473060 2001
dbSNP: rs1181860747
rs1181860747
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0014175
Disease:
Endometriosis
0.010 GeneticVariation BEFREE These results suggest that the IRS2 G1057D polymorphism may be associated with an increased risk for endometriosis. 19878940 2010
dbSNP: rs1181860747
rs1181860747
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0010068
Disease:
Coronary heart disease
0.010 GeneticVariation BEFREE Gly1057Asp polymorphism of insulin receptor substrate-2 is associated with coronary artery disease in the Taiwanese population. 23216712 2012