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 GeneticVariation disease UNIPROT Therefore, one missense mutation (Thr831-->Ala831) in the insulin receptor, as found in three patients, is possibly involved in the etiology of a subset of the 51 NIDDM patients. 7657032 1995
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease UNIPROT NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene. 1607076 1992
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease UNIPROT [Insulin receptor Arg1131-->Gln: a novel mutation in the catalytic loop of insulin receptor observed in insulin resistant diabetes]. 1470163 1992
Diabetes Mellitus, Non-Insulin-Dependent
0.700 Therapeutic disease RGD TANK-binding kinase 1 mediates phosphorylation of insulin receptor at serine residue 994: a potential link between inflammation and insulin resistance. 19251743 2009
Diabetes Mellitus, Non-Insulin-Dependent
0.700 Therapeutic disease RGD Duodenal-jejunal bypass surgery up-regulates the expression of the hepatic insulin signaling proteins and the key regulatory enzymes of intestinal gluconeogenesis in diabetic Goto-Kakizaki rats. 23700236 2013
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 Biomarker disease RGD Reduced expression of insulin receptors in the kidneys of insulin-resistant rats. 17855644 2007
Diabetes Mellitus, Non-Insulin-Dependent
0.700 Biomarker disease HPO
Diabetes Mellitus, Non-Insulin-Dependent
0.700 CausalMutation disease CLINVAR
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease BEFREE Insulin receptor variant forms and type 2 diabetes mellitus. 11258596 2000
Diabetes Mellitus, Non-Insulin-Dependent
0.700 AlteredExpression disease BEFREE In such a case, it is important to develop pharmacological interventions that directly restore plasma insulin levels, insulin receptor function, and hexokinase activity, thereby avoiding damage to neural tissue that is associated with cognitive deficits in diabetic patients, particularly patients with type-2 diabetes. 28673577 2017
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease BEFREE Insulin resistance and glucose dysmetabolism in polycystic ovary syndrome (PCOS) are related with the polymorphisms in the genes encoding the insulin receptor substrate (IRS) proteins, especially Gly972Arg/Ala513Pro polymorphism being reported to be associated with type-2 diabetes and PCOS. 16603055 2006
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease BEFREE Correction to: Functional Polymorphism Located in the microRNA Binding Site of the Insulin Receptor (INSR) Gene Confers Risk for Type 2 Diabetes Mellitus in the Bangladeshi Population. 30062661 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.700 Biomarker disease BEFREE The ectoenzyme PC-1 is an insulin receptor inhibitor that is elevated in cells and tissues of humans with type 2 diabetes (T2D). 16278247 2006
Diabetes Mellitus, Non-Insulin-Dependent
0.700 AlteredExpression disease BEFREE Aberrant liver insulin receptor isoform a expression normalises with remission of type 2 diabetes after gastric bypass surgery. 25742416 2015
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease BEFREE Differences in the ratio of RNA encoding two isoforms of the insulin receptor between control and NIDDM patients. The RNA variant without Exon 11 predominates in both groups. 7683288 1993
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease BEFREE We have recently examined the exons encoding the insulin receptor tyrosine kinase domain and GLUT 4 in 30 subjects with Type 2 (non-insulin-dependent) diabetes mellitus using a molecular scanning approach. 1521731 1992
Diabetes Mellitus, Non-Insulin-Dependent
0.700 Biomarker disease BEFREE The possibility that the insulin receptor and GLUT4 may be candidate genes for inherited insulin resistance in NIDDM has been addressed with the aid of genetic screening techniques such as SSCP. 1499871 1992
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease BEFREE Lack of association between the insulin receptor substrates-1 Gly972Arg polymorphism and type-2 diabetes mellitus among Saudis from Eastern Saudi Arabia. 26620983 2015
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease BEFREE We therefore characterized restriction-fragment-length polymorphisms of the insulin-receptor gene with the restriction enzyme Rsa 1 in 242 Mexican Americans and non-Hispanic Whites with type II diabetes and 202 age-, sex-, and ethnicity-matched control subjects who participated in a population-based study in San Antonio. 2568958 1989
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease BEFREE The aim of our study was to investigate whether common polymorphisms in the genes regulating the early insulin signalling pathway (insulin; A-23T, insulin-like growth factor 1 receptor [IGF-1R]; GAG1013GAA, plasma cell membrane glycoprotein 1 [PC-1]; K121Q, insulin receptor substrate [IRS-1]; G972R, insulin receptor substrate 2 [IRS-2]; G1057D and phosphatidylinositol 3-kinase p85 alpha [PI3K]; M326I) affect the weight change and development of Type 2 diabetes in the Finnish Diabetes Prevention Study. 15127203 2004
Diabetes Mellitus, Non-Insulin-Dependent
0.700 Biomarker disease BEFREE Dysregulation of IR splicing in insulin target tissues may occur in patients with insulin resistance; however, its role in type 2 diabetes is unclear. 19752219 2009
Diabetes Mellitus, Non-Insulin-Dependent
0.700 Biomarker disease BEFREE A reduction in tyrosine phosphorylation of both the insulin receptor (IR) and the insulin receptor substrate-1 (IRS-1) has been noted in both animal and human type 2 diabetes. 10395191 1999
Diabetes Mellitus, Non-Insulin-Dependent
0.700 AlteredExpression disease BEFREE In conclusion, diabetes mellitus per se does not alter the expression of IR isoforms in the liver and skeletal muscle, and therefore, at least in this animal model of NIDDM, impaired insulin action develops independently from a relative increase in IR36+ mRNA expression in skeletal muscle. 9472957 1998