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 Biomarker group HPO
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 Biomarker group BEFREE Diabetes was induced by tetracycline-inducible small hairpin RNA (shRNA) knockdown of the insulin receptor in rats, generating TetO rats. 27704165 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE Insulin receptor substrate (IRS)-2 plays an important role in insulin signaling and its disruption results in diabetes in mice. 12765968 2003
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE Insulin receptor dysfunction has been associated with many diseases, including diabetes, cancer and Alzheimer's disease. 29512653 2018
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 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 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 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 Biomarker group BEFREE Defective hepatic insulin receptor (IR) signalling is a pathogenic manifestation of metabolic disorders including obesity and diabetes. 26387534 2015
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 AlteredExpression group BEFREE Furthermore, we established an hIRalpha-specific enzyme-linked immunosorbent assay and measured the plasma IRalpha levels in patients with diabetes. 17563065 2007
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE Future research with new IR modulators might be considered as possible targets to improve the treatment of diabetes and its associated complications. 29201918 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE Genetic disorders and insulin receptor disorders, environmental factors, lifestyle choices and toxins are key factors that contribute to DM. 31693730 2019
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 Biomarker group BEFREE Growth factor signaling via insulin receptor (IR) and IGF-1 receptor (IGF1R) plays several important roles in the pathogenesis of metabolic syndrome and diabetes. 28646158 2017
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 AlteredExpression group BEFREE Here, we report for the first time that expression of the insulin receptor (IR) in human kidney is altered during diabetes. 23059533 2013
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 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 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 Biomarker group BEFREE Human diabetes associated with defects in nuclear regulatory proteins for the insulin receptor gene. 8550844 1996
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus
0.200 AlteredExpression group BEFREE Importantly, this phenotype was reversible (i.e., discontinuation of Dox treatment led to INSR re-expression and remission of diabetes symptoms). 19017805 2008
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 Biomarker group BEFREE In human, defects in insulin receptor signaling cause insulin resistance and diabetes, and IGF-1 deficiency is associated with an increased risk of cardiovascular disease and atherosclerosis. 18672019 2009
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 Biomarker group BEFREE In muscle from patients with DM1, altered insulin-receptor splicing to the nonmuscle isoform corresponds to the insulin insensitivity and diabetes that are part of the DM phenotype; because of insulin-receptor species differences, this effect is not seen in mouse models of the disease. 15114529 2004
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