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 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 AlteredExpression disease BEFREE Our findings provide the first direct evidence linking hyperinsulinemia to alterations in insulin receptor mRNA splicing, and suggest that alterations of insulin receptor mRNA splicing in muscle is an early molecular marker that may play an important role in NIDDM. 8083370 1994
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 AlteredExpression disease BEFREE An asymmetrical reduction in the levels of the insulin receptor mRNA transcribed from one allele was reported in some patients with severe insulin resistance and non-insulin-dependent diabetes mellitus (NIDDM). 8481401 1993
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 Biomarker disease BEFREE To study genetic susceptibility to non-insulin dependent diabetes mellitus (NIDDM), association of insulin receptor gene, a candidate gene for NIDDM, with NIDDM was studied. 8344133 1993
Diabetes Mellitus, Non-Insulin-Dependent
0.700 Biomarker disease BEFREE Defects in insulin-receptor function have been associated with insulin-resistant states such as obesity and non-insulin-dependent diabetes mellitus (NIDDM). 1968373 1990
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 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 Biomarker disease BEFREE Disruption of INSR-coupled activities has been identified in a wide range of insulin resistance-related diseases such as T2DM. 31658625 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.700 Biomarker disease BEFREE One of the hallmarks of T2DM is peripheral insulin resistance, in part due to unproductive insulin signaling through the insulin receptor. 27526875 2016
Diabetes Mellitus, Non-Insulin-Dependent
0.700 Biomarker disease BEFREE Because the nature and location of the insertion did not suggest a role in insulin-receptor function, the association of this RFLP with NIDDM and hyperinsulinemia was reexamined in a small sample of Whites. 2566545 1989
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 AlteredExpression disease BEFREE Needle biopsies obtained from vastus lateralis muscle from 20 patients with noninsulin-dependent diabetes mellitus (NIDDM) and 20 normal control subjects were analyzed for the relative expression of insulin receptor mRNA variants in a novel assay using fluorescence-labeled primers and subsequent analysis on an automated DNA sequencer. 8263133 1993
Diabetes Mellitus, Non-Insulin-Dependent
0.700 Biomarker disease BEFREE A genetic analysis of diabetic and non-diabetic Punjabi Sikhs (n = 164) was made for markers of non-insulin-dependent diabetes mellitus using insulin receptor, insulin, and HLA-D alpha chain gene probes. 2892607 1988
Diabetes Mellitus, Non-Insulin-Dependent
0.700 AlteredExpression disease BEFREE These data indicate an important functional role for the insulin receptor in glucose sensing by the pancreatic beta cell and suggest that defects in insulin signaling at the level of the beta cell may contribute to the observed alterations in insulin secretion in type 2 diabetes. 10025399 1999
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 AlteredExpression disease BEFREE PBMCs incubated for 1 hour with plasma from T2DM and pre-T2DM participants had significantly lower levels of insulin receptor density compared to those incubated with plasma from control participants (<i>p</i> < 0.001). 30964398 2019
Diabetes Mellitus, Non-Insulin-Dependent
0.700 GeneticVariation disease BEFREE Insulin receptor gene polymorphisms in type 2 (non-insulin-dependent) diabetes mellitus. 2065860 1991