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: rs2059807
rs2059807
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0206081
Disease:
Hyperandrogenism
0.010 GeneticVariation BEFREE After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR) (rs13405728), C9orf3 (rs4385527) and insulin receptor gene (INSR) (rs2059807) were strongly associated with OA (Padjust < 0.01, <0.001 and <0.05, respectively); rs4385527 in C9orf3 was strongly associated with HA (Padjust< 0.001); variants in the thyroid adenoma associated gene (THADA) (rs13429458 and rs12478601), DENN/MADD domain containing 1A (DENND1A)(rs10818854), and C9orf3 (rs4385527) were significantly associated with PCOM (Padjust < 0.01, <0.001, <0.05 and <0.001, respectively). 25586784 2015
dbSNP: rs2059807
rs2059807
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0003128
Disease:
Anovulation
0.010 GeneticVariation BEFREE After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR) (rs13405728), C9orf3 (rs4385527) and insulin receptor gene (INSR) (rs2059807) were strongly associated with OA (Padjust < 0.01, <0.001 and <0.05, respectively); rs4385527 in C9orf3 was strongly associated with HA (Padjust< 0.001); variants in the thyroid adenoma associated gene (THADA) (rs13429458 and rs12478601), DENN/MADD domain containing 1A (DENND1A)(rs10818854), and C9orf3 (rs4385527) were significantly associated with PCOM (Padjust < 0.01, <0.001, <0.05 and <0.001, respectively). 25586784 2015
dbSNP: rs2059807
rs2059807
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0151468
Disease:
Thyroid Gland Follicular Adenoma
0.010 GeneticVariation BEFREE After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR) (rs13405728), C9orf3 (rs4385527) and insulin receptor gene (INSR) (rs2059807) were strongly associated with OA (Padjust < 0.01, <0.001 and <0.05, respectively); rs4385527 in C9orf3 was strongly associated with HA (Padjust< 0.001); variants in the thyroid adenoma associated gene (THADA) (rs13429458 and rs12478601), DENN/MADD domain containing 1A (DENND1A)(rs10818854), and C9orf3 (rs4385527) were significantly associated with PCOM (Padjust < 0.01, <0.001, <0.05 and <0.001, respectively). 25586784 2015
dbSNP: rs2059807
rs2059807
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0429468
Disease:
Anovulatory (finding)
0.010 GeneticVariation BEFREE After adjustment for age and BMI, variants in luteinizing hormone/choriogonadotropin receptor (LHCGR) (rs13405728), C9orf3 (rs4385527) and insulin receptor gene (INSR) (rs2059807) were strongly associated with OA (Padjust < 0.01, <0.001 and <0.05, respectively); rs4385527 in C9orf3 was strongly associated with HA (Padjust< 0.001); variants in the thyroid adenoma associated gene (THADA) (rs13429458 and rs12478601), DENN/MADD domain containing 1A (DENND1A)(rs10818854), and C9orf3 (rs4385527) were significantly associated with PCOM (Padjust < 0.01, <0.001, <0.05 and <0.001, respectively). 25586784 2015
dbSNP: rs2059807
rs2059807
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE Risk allele homozygotes (rs2059807) were less prevalent among subjects with obesity-related cancer. 26077721 2015
dbSNP: rs2059807
rs2059807
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE Risk allele homozygotes (rs2059807) were less prevalent among subjects with obesity-related cancer. 26077721 2015
dbSNP: rs2229429
rs2229429
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0271183
Disease:
Severe myopia
0.010 GeneticVariation BEFREE SNPs in the INS-IGF2 region (rs2070762 and rs1003483), and the INSR gene (rs3745551 and rs2229429) showed significant association with HM (allelic P = 0.0085, 0.0494, 0.0171 and 0.0238, respectively). 25266237 2015
dbSNP: rs3745551
rs3745551
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0271183
Disease:
Severe myopia
0.010 GeneticVariation BEFREE SNPs in the INS-IGF2 region (rs2070762 and rs1003483), and the INSR gene (rs3745551 and rs2229429) showed significant association with HM (allelic P = 0.0085, 0.0494, 0.0171 and 0.0238, respectively). 25266237 2015
dbSNP: rs781007453
rs781007453
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0020615
Disease:
Hypoglycemia
0.010 GeneticVariation BEFREE In one patient, a missense mutation (Arg256Cys) was detected in both alleles of the IR gene, and his parents had the same mutation in only one allele but no hypoglycemia. 25753915 2015
dbSNP: rs17253937
rs17253937
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.010 GeneticVariation BEFREE This study was designed to determine whether an association exists between three SNP variants (rs3786681, rs17253937 and rs2252673) of the INSR gene and PCOS in Han Chinese. 24947064 2014
dbSNP: rs3786681
rs3786681
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0032460
Disease:
Polycystic Ovary Syndrome
0.010 GeneticVariation BEFREE This study was designed to determine whether an association exists between three SNP variants (rs3786681, rs17253937 and rs2252673) of the INSR gene and PCOS in Han Chinese. 24947064 2014
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: rs1419256494
rs1419256494
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome
0.010 GeneticVariation BEFREE Treatment with rhIGF-I partially reversed severe progressive HOCM and renal tubular dysfunction in a patient with Donohue syndrome associated with a novel p.Leu795Pro INSR gene mutation causing a severe decrease in IR autophosphorylation. 23229189 2013
dbSNP: rs1419256494
rs1419256494
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0151747
Disease:
Renal tubular disorder
0.010 GeneticVariation BEFREE Treatment with rhIGF-I partially reversed severe progressive HOCM and renal tubular dysfunction in a patient with Donohue syndrome associated with a novel p.Leu795Pro INSR gene mutation causing a severe decrease in IR autophosphorylation. 23229189 2013
dbSNP: rs1419256494
rs1419256494
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0007194
Disease:
Hypertrophic Cardiomyopathy
0.010 GeneticVariation BEFREE Treatment with rhIGF-I partially reversed severe progressive HOCM and renal tubular dysfunction in a patient with Donohue syndrome associated with a novel p.Leu795Pro INSR gene mutation causing a severe decrease in IR autophosphorylation. 23229189 2013
dbSNP: rs934099
rs934099
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0595995
Disease:
Idiopathic scoliosis
0.010 GeneticVariation BEFREE XbaI single nucleotide polymorphism (SNP) (A/G rs934099) in estrogen receptor 1 gene (ESR1) was described to be associated with curve severity in Japanese idiopathic scoliosis (IS) patients and in Chinese patients with both curve severity and predisposition to IS. 24155906 2013
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: 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
dbSNP: rs1181860747
rs1181860747
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0011849
Disease:
Diabetes Mellitus
0.010 GeneticVariation BEFREE The concurrence of Gly1057Asp polymorphism in IRS-2 with DM is correlated with occurrence of CAD. 23216712 2012
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: 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: rs8108622
rs8108622
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: 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