INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE The "T" allele of the His1085His polymorphism in the INSR gene shows significant protection against diabetes. 22775283 2012
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE We focused on the insulin receptor gene because of the documented insulin resistance of DM patients. 9120013 1997
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE To evaluate whether hyperglycaemia in two lean patients with primary severe insulin resistance due to insulin receptor (IR) mutations and diabetes mellitus could be reduced by supplement of rosiglitazone for 180 days and secondary, to evaluate the effects on plasma NEFA, TG, Apo B, PAI-1 and serum insulin. 11887975 2001
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor. 2544998 1989
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE Human diabetes associated with a deletion of the tyrosine kinase domain of the insulin receptor. 2544997 1989
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE In mice, the deletion of insulin receptor substrate type 2 (Irs2) causes peripheral insulin resistance and reduction in β-cell mass, leading to overt diabetes, with gender differences on adrenergic signaling. 30367392 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE Based on network analysis, we identified enrichment for pathways implicated in metabolic syndrome and diabetes (insulin receptor signaling, lipid metabolism, immunity and trafficking). 28886276 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE A restriction-fragment-length polymorphism (RFLP) detected with the human insulin-receptor cDNA and the enzyme Sac I has been reported to be associated with non-insulin-dependent diabetes mellitus (NIDDM) in White and Black populations and segregated with diabetes in two small pedigrees with maturity-onset diabetes of the young. 2566545 1989
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE Mutations in the insulin receptor gene may lead to insulin resistance and diabetes mellitus in some patients. 7714091 1995
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE Gly1057Asp polymorphism in insulin receptor substrate (IRS)-2 is related to insulin resistance and diabetes mellitus (DM), which both contribute to the pathogenesis of coronary artery disease (CAD). 23216712 2012
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE The technique of homozygosity mapping has been used to demonstrate that the mutation causing diabetes in this consanguineous family is genetically linked to the insulin receptor gene. 2573522 1989
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE Diabetes-associated mutations in insulin: consecutive residues in the B chain contact distinct domains of the insulin receptor. 15222748 2004
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE Multivariate logistic regression analysis with adjustment for the prevalence of diabetes mellitus revealed that the 1615G-->A polymorphism of BCHE, the 7,067,365C-->A polymorphism of INSR, the C-->T polymorphism of GPX1, the G-->A polymorphism of ROS1, and the G-->A polymorphism of MMP9 were associated (P<0.05) with in-stent restenosis. 17275003 2007
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE The insulin receptor (IR) in two brothers with a rare syndrome of congenital muscle fiber type disproportion myopathy (CFTDM) associated with diabetes and severe insulin resistance was studied. 10844410 1999
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE In contrast to the one previous linkage analysis study of the insulin receptor gene, no specific association of diabetes with the rare Sst1 S1(-) allele was observed in either the maturity onset diabetes of the young or the Type 2 diabetic families. 3234633 1988
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE Of the 16 pedigrees ascertained for Type 2 diabetes, at least one recombinant event between diabetes and the insulin receptor locus was present in seven pedigrees. 1683636 1991
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE Also, GLUT4, insulin receptor (IRβ), acetyl coenzyme A (ACC), etc. increased in fat pad of maternal offspring of diabetes. 28925477 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 GeneticVariation group BEFREE Insulin resistance and diabetes due to different mutations in the tyrosine kinase domain of both insulin receptor gene alleles. 2002058 1991
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE Rodents with tissue-specific knockout of the insulin receptor in the β-cell (βIRKO) show reduced first-phase glucose-stimulated insulin secretion (GSIS) and with aging develop glucose intolerance and diabetes, phenotypically similar to the process seen in human T2D. 22928576 2012
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE The purpose of this study was to introduce the foreskin as a novel model to examine developmental programming in human neonates, particularly in regard to adipogenesis and insulin receptor signaling, major contributors to age-associated diseases such as obesity and diabetes. 28034763 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE Understanding the structural biology of the insulin receptor and how it signals is of key importance in the development of insulin analogs to treat diabetes. 30356040 2018
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE Together, these data demonstrate the novel role of placental InsRs in sex-specific neurodevelopment and reveal a potential mechanism for neurodevelopmental disorder risk in pregnancies complicated by maternal metabolic disorders, including diabetes and obesity. 28168960 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE IR is expressed in all tissues, but it is not known if diabetes affects IR in all tissues equally. 26921319 2016
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE Heterozygous individuals expressing both wildtype and mutant tyrosine kinase-defective insulin receptor precursors demonstrate varying degrees of insulin resistance and diabetes. 1316361 1992
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE The diabetes drug liraglutide reverses cognitive impairment in mice and attenuates insulin receptor and synaptic pathology in a non-human primate model of Alzheimer's disease. 29435980 2018