Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease BEFREE Insulin receptor variant forms and type 2 diabetes mellitus. 11258596 2000
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 Biomarker disease HPO
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 AlteredExpression disease BEFREE Insulin receptor isotype expression correlates with risk of non-insulin-dependent diabetes. 7681983 1993
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease BEFREE These data indicate that the region of the insulin receptor gene coding for the intracellular portion of the beta-subunit is highly polymorphic and that polymorphisms surrounding specific exons can be identified by denaturing gradient gel blotting, but there is no evidence that variation at this locus contributes to NIDDM susceptibility in most individuals. 7775636 1995
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease BEFREE This review will focus on the structural and functional heterogeneity of the insulin receptor, and will discuss the pathogenetic role of insulin receptor variant forms and polymorphisms in the development of the common form of type 2 diabetes. 11747141 2002
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 Biomarker disease BEFREE Insulin resistance is a key driver of type 2 diabetes (T2D) and is characterized by defective insulin receptor (INSR) signalling. 27577745 2016
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 AlteredExpression disease BEFREE Messenger RNA and protein expression for HMGA1 and INSR were measured in both peripheral lymphomonocytes and cultured Epstein-Barr virus-transformed lymphoblasts from patients with type 2 DM and controls. 21364139 2011
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease BEFREE Identification of a mutation in the insulin receptor gene in a patient with a moderate degree of insulin resistance associated with morbid obesity suggests that insulin receptor mutations may exist in patients with Type 2 (non-insulin-dependent) diabetes mellitus associated with a moderate degree of insulin resistance. 1563582 1992
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease BEFREE The G1057D polymorphism in insulin receptor substrate (IRS)-2 gene is associated with type 2 diabetes mellitus (T2DM) risk, but results in published literatures are controversial. 25959789 2015
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease BEFREE However, rs2059806 in INSR was associated with both type 2 diabetes mellitus (P = 0.033) and type 2 diabetic nephropathy (P = 0.018). 25867326 2015