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 BEFREE Insulin receptor variant forms and type 2 diabetes mellitus. 11258596 2000
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 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 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 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 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
Diabetes Mellitus, Non-Insulin-Dependent
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
Diabetes Mellitus, Non-Insulin-Dependent
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
Diabetes Mellitus, Non-Insulin-Dependent
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
Diabetes Mellitus, Non-Insulin-Dependent
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
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease BEFREE Although no significant association of restriction fragment length polymorphism with Type 2 diabetes was found in the present study, our results suggest that the restriction fragment length polymorphism in the human insulin receptor gene varies among ethnic groups, and that the restriction fragment length polymorphism linked to the human insulin receptor gene might be a useful marker for the linkage study of the genes located close to the human insulin receptor gene on chromosome 19. 2878850 1986
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease BEFREE To investigate the potential of the technique for screening many patients, the 5 exons that encode the tyrosine kinase domain of the insulin receptor were examined in 30 unrelated white subjects with non-insulin-dependent diabetes mellitus (NIDDM). 2040394 1991
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease BEFREE The analysis of the INSR locus revealed "protective" haplotypes, and it may be possible to use two of the INSR haplotypes as genetic markers to identify individuals having a very low probability of developing NIDDM regardless of the presence of other genes conferring susceptibility to this disorder. 2562831 1989
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease BEFREE Since the insulin receptor substrate-1 (IRS-1) is the major substrate of the insulin receptor tyrosine kinase and has been shown to activate phosphatidylinositol (PI) 3-kinase and promote GLUT4 translocation, the IRS-1 gene is a potential candidate for development of non-insulin-dependent diabetes mellitus (NIDDM). 8739921 1996
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease BEFREE Frequency of mutations of insulin receptor gene in Japanese patients with NIDDM. 7657032 1995
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease BEFREE Mutations in or near the insulin receptor gene are unlikely to be the major cause of inherited predisposition to NIDDM in Chinese pedigrees that are related in this study, not excluding the principal role in the other Chinese or populations, while the mutations/variations near or at the glucose transporter 2 gene locus might be something of the cause, which needs more data to be ascertained, of familial NIDDM in Chinese pedigrees. 11189234 1998
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease BEFREE We conclude that the association between the Met985 variant in the insulin receptor gene and type 2 diabetes, which we previously reported in the Rotterdam study, is supported by thejoint analysis with a second population-based study and other studies. 10084586 1999
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease BEFREE Each pedigree was initially examined with insulin receptor restriction fragment length polymorphisms to determine whether any allele segregated with Type 2 diabetes in these pedigrees. 1683636 1991
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease BEFREE No difference was detected in the expression of IRS-1, IGF-1, IGF-2, IGFBP3, IR and mTOR between groups with or without T2DM. 24289561 2013
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease BEFREE The significance of insulin receptor gene variants in the aetiology of Type 2 (non-insulin-dependent) diabetes mellitus has been investigated by analysis of restriction fragment length polymorphisms in a genetically homogeneous Swedish population. 1676686 1991
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease UNIPROT NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene. 1607076 1992