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: C0032460
Disease:
Polycystic Ovary Syndrome 		0.830 GeneticVariation BEFREE The cohort with rs2059807 MAF presented elevated levels of luteinising hormone [PCOS vs Control: 6.32 ± 2.26 mIU/mL vs 4.97 ± 3.27 mIU/mL], estradiol [116.01 ± 60.63 pg/mL vs 65.04 ± 44.98 pg/mL], and decreased HDL - C [50.4 ± 11.59 mg/dL vs 64 ± 15.49 mg/dL] showing disturbances in the hormonal patterns. 31837364 2020
dbSNP: rs2059807
rs2059807
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0032460
Disease:
Polycystic Ovary Syndrome 		0.830 GeneticVariation BEFREE Our current meta-analysis suggests no significant correlation between rs1799817/rs2059806 SNPs and susceptibility of PCOS, while rs2059807 could be a promising candidate SNP that might be involved in the susceptibility of PCOS. 25622255 2015
dbSNP: rs2059807
rs2059807
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0032460
Disease:
Polycystic Ovary Syndrome 		G 0.830 GeneticVariation GWASCAT Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. 22885925 2012
dbSNP: rs2059807
rs2059807
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0032460
Disease:
Polycystic Ovary Syndrome 		G 0.830 GeneticVariation GWASDB Genome-wide association study identifies eight new risk loci for polycystic ovary syndrome. 22885925 2012
dbSNP: rs2059807
rs2059807
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0032460
Disease:
Polycystic Ovary Syndrome 		0.830 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: rs121913143
rs121913143
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0271695
Disease:
Rabson-Mendenhall Syndrome 		0.810 GeneticVariation UNIPROT Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 28765322 2017
dbSNP: rs121913145
rs121913145
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 28765322 2017
dbSNP: rs121913158
rs121913158
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance. 28765322 2017
dbSNP: rs121913145
rs121913145
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT Two novel mutations identified in familial cases with Donohue syndrome. 24498630 2014
dbSNP: rs121913158
rs121913158
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT Two novel mutations identified in familial cases with Donohue syndrome. 24498630 2014
dbSNP: rs121913145
rs121913145
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure. 22768670 2012
dbSNP: rs121913158
rs121913158
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT A novel mutation of the insulin receptor gene in a preterm infant with Donohue syndrome and heart failure. 22768670 2012
dbSNP: rs121913143
rs121913143
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0271695
Disease:
Rabson-Mendenhall Syndrome 		0.810 GeneticVariation UNIPROT Functional characterization of a novel insulin receptor mutation contributing to Rabson-Mendenhall syndrome. 17201797 2007
dbSNP: rs121913145
rs121913145
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT Deletion of V335 from the L2 domain of the insulin receptor results in a conformationally abnormal receptor that is unable to bind insulin and causes Donohue's syndrome in a human subject. 12538626 2003
dbSNP: rs121913145
rs121913145
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. 12970295 2003
dbSNP: rs121913158
rs121913158
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT Identification and functional assessment of novel and known insulin receptor mutations in five patients with syndromes of severe insulin resistance. 12970295 2003
dbSNP: rs121913158
rs121913158
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT Deletion of V335 from the L2 domain of the insulin receptor results in a conformationally abnormal receptor that is unable to bind insulin and causes Donohue's syndrome in a human subject. 12538626 2003
dbSNP: rs121913143
rs121913143
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0271695
Disease:
Rabson-Mendenhall Syndrome 		0.810 GeneticVariation UNIPROT Genotype-phenotype correlation in inherited severe insulin resistance. 12023989 2002
dbSNP: rs121913145
rs121913145
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT Genotype-phenotype correlation in inherited severe insulin resistance. 12023989 2002
dbSNP: rs121913158
rs121913158
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT Genotype-phenotype correlation in inherited severe insulin resistance. 12023989 2002
dbSNP: rs121913143
rs121913143
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0271695
Disease:
Rabson-Mendenhall Syndrome 		0.810 GeneticVariation UNIPROT Progressive decline in insulin levels in Rabson-Mendenhall syndrome. 10443650 1999
dbSNP: rs121913145
rs121913145
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome. 9703342 1998
dbSNP: rs121913158
rs121913158
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT Multiple molecular mechanisms of insulin receptor dysfunction in a patient with Donohue syndrome. 9703342 1998
dbSNP: rs121913145
rs121913145
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT Molecular analysis of the insulin receptor gene for prenatal diagnosis of leprechaunism in two families. 9249867 1997
dbSNP: rs121913145
rs121913145
Entrez Id: 3643
Gene Symbol: INSR
INSR
CUI: C0265344
Disease:
Donohue Syndrome 		0.810 GeneticVariation UNIPROT Four mutant alleles of the insulin receptor gene associated with genetic syndromes of extreme insulin resistance. 9299395 1997