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
Diabetes Mellitus, Non-Insulin-Dependent
0.700 Biomarker disease BEFREE Insulin therapy is often needed to overcome insulin receptor resistance in type 2 diabetes; however, the impact of providing additional insulin to already hyperinsulinemic subjects is not clear. 30249002 2018
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease BEFREE The peroxisome proliferator-activated receptor gamma (PPARG), Pro12Ala and the insulin receptor substrate (IRS1), Gly972Arg confer opposite effects on insulin resistance and type 2 diabetes mellitus (T2DM). 24447396 2014
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease BEFREE The usefulness of these adaptations is illustrated by their application to the simultaneous detection of three point mutations, two in the tyrosine kinase domain of the insulin receptor and one in the insulin-responsive glucose transporter (GLUT4) in a highly insulin-resistant NIDDM population. 1301912 1992
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease BEFREE We investigated the significance of Gly1057Asp and Leu647Val insulin receptor substrate (IRS)-2 polymorphisms in two Italian cohorts comprising 186 glucose-tolerant subjects and 240 subjects with type 2 diabetes from the Lazio region (i.e. representative of central Italy), and 123 glucose-tolerant subjects from the Sicily region (i.e. representative of south Italy). 12519871 2003
Diabetes Mellitus, Non-Insulin-Dependent
0.700 CausalMutation disease CLINVAR
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease BEFREE Fetuin-A is a physiological inhibitor of insulin receptor tyrosine kinase and thus associated with insulin resistance, metabolic syndrome, and an increased risk for type 2 diabetes mellitus (T2DM). 29071522 2018
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease BEFREE Allelic variants at insulin-receptor and insulin gene loci and susceptibility to NIDDM in Welsh population. 1978826 1990
Diabetes Mellitus, Non-Insulin-Dependent
0.700 Biomarker disease BEFREE We worked with a transgenic rat model of type 2 diabetes mellitus (Tet29) in which the insulin receptor is knocked down by doxycycline-induced RNA interference. 29610268 2018
Diabetes Mellitus, Non-Insulin-Dependent
0.700 AlteredExpression disease BEFREE Gene expressions of insulin receptor (INSR), vitamin D receptor, insulin degrading enzyme, Akt, insulin receptor substrate-1 (IRS-1), IRS-2, glucose transporter 4 (GLUT4), and enzymes of the glycolytic pathway were decreased at least 50% in T2DM than in controls. 18267303 2007
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease 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
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease BEFREE The aim of this study was to assess the association between genetic variants of the insulin receptor substrate (IRS)-1 gene, platelet function, and long-term outcomes in patients with type 2 diabetes mellitus (DM) and stable coronary artery disease while on aspirin and clopidogrel therapy. 21700086 2011
Diabetes Mellitus, Non-Insulin-Dependent
0.700 Biomarker disease RGD Contraction of insulin-resistant muscle normalizes insulin action in association with increased mitochondrial activity and fatty acid catabolism. 17050616 2007
Diabetes Mellitus, Non-Insulin-Dependent
0.700 Biomarker disease RGD Inducible transgenic rat model for diabetes mellitus based on shRNA-mediated gene knockdown. 19340286 2009
Diabetes Mellitus, Non-Insulin-Dependent
0.700 AlteredExpression disease BEFREE In this review, we discuss the role of insulin and the INSR in the development and endocrine activity of adipose tissue and the pharmacological implications for the management of obesity and type 2 diabetes. 30754657 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.700 Biomarker disease BEFREE Allosteric modulation of the insulin receptor (IR) with monoclonal antibodies (mAbs) can enhance insulin sensitivity and restore glycemic control in animal models of T2D. 29453154 2018
Diabetes Mellitus, Non-Insulin-Dependent
0.700 Biomarker disease BEFREE Regulation of Aβ production by glucose and insulin and effects of Aβ on the insulin receptor pathway suggest similar cellular mechanisms may exist between neuronal dysfunction in Alzheimer disease and adipose dysfunction in type 2 diabetes. 27172814 2016
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease BEFREE The variant genotypes rs1366600CC and TC/CC in the insulin receptor (INSR) gene, rs2292899GA in the acyl-CoA synthetase 1 (ACSL1) gene and rs11724758AA in the fatty-acid-binding protein 2 (FABP2) gene were associated with T2DM (adjusted odds ratios (ORs) (95% confidence intervals)=2.03 (1.02-4.01), 1.28 (1.04-1.57), 1.22 (1.004-1.49) and 0.76 (0.58-0.997), respectively). 23303383 2013
Diabetes Mellitus, Non-Insulin-Dependent
0.700 Biomarker disease BEFREE This review will focus on the role of the insulin receptor isoforms in normal development and the pathogenesis of certain cancers and type 2 diabetes. 14710358 2004
Diabetes Mellitus, Non-Insulin-Dependent
0.700 AlteredExpression disease BEFREE The results described here support restoration of IR expression as a safe and effective T2DM therapeutic with a long-lasting profile. 31391336 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease BEFREE Methionine for valine substitution in exon 17 of the insulin receptor gene in a pedigree with familial NIDDM. 8432414 1993
Diabetes Mellitus, Non-Insulin-Dependent
0.700 Biomarker disease BEFREE To directly address the question of potential insulin-receptor genetic defects in Pima Indians, we isolated and sequenced insulin-receptor cDNA from two Pima Indians with NIDDM. 2620783 1989
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease BEFREE NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene. 1607076 1992
Diabetes Mellitus, Non-Insulin-Dependent
0.700 AlteredExpression disease BEFREE In conclusion, the increased expression of the insulin receptor isoform with lower insulin binding affinity in patients with primary non-genetically determined hyperinsulinaemia supports a role for insulin in the regulation of alternative splicing of insulin receptor pre-mRNA and suggests that in NIDDM an altered receptor isoform distribution might be secondary to the ambient hyperinsulinaemia rather than representing a primary defect. 8635675 1996
Diabetes Mellitus, Non-Insulin-Dependent
0.700 AlteredExpression disease BEFREE When compared with cells from control subjects, myotubes established from patients with type 2 diabetes presented the same defects as those previously evidenced in vivo in muscle biopsies, including defective stimulation of phosphatidylinositol (PI) 3-kinase activity, decreased association of PI 3-kinase with insulin receptor substrate (IRS)-1 and reduced IRS-1 tyrosine phosphorylation during insulin stimulation. 12765939 2003
Diabetes Mellitus, Non-Insulin-Dependent
0.700 Biomarker disease BEFREE Altered insulin receptor signalling and β-cell cycle dynamics in type 2 diabetes mellitus. 22140505 2011