Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 Biomarker disease HPO
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 CausalMutation disease CLINVAR
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease BEFREE Accordingly, it is likely that mutations in the insulin-receptor gene may be a contributory cause of insulin resistance in a subpopulation with NIDDM. 1327927 1992
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease BEFREE Neither inspection of individual pedigree log of odds scores nor formal tests of heterogeneity suggested a subgroup in which linkage of NIDDM and insulin-receptor gene was likely. 1348997 1992
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
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 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 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 UNIPROT NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene. 1607076 1992
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease BEFREE NIDDM associated with mutation in tyrosine kinase domain of insulin receptor gene. 1607076 1992
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease BEFREE In an attempt to elucidate whether structural defects in the insulin receptor could be a primary cause of insulin resistance in NIDDM, we analyzed the insulin-receptor cDNA sequence in a subject with NIDDM who is also homozygous for this RFLP. 1671379 1991
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 AlteredExpression disease BEFREE We report here a tissue-specific alteration of the insulin receptor RNA splice pattern in non-insulin-dependent diabetes mellitus (NIDDM) patients. 1711209 1991
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease BEFREE From these studies, we conclude that the insulin resistance seen in the great majority of subjects with the common form of NIDDM is not due to genetic variation in the coding sequence of the IR beta subunit, nor to any single mutation in the GLUT-4 gene. 1918382 1991
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease BEFREE Allelic variants at insulin-receptor and insulin gene loci and susceptibility to NIDDM in Welsh population. 1978826 1990
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 GeneticVariation disease BEFREE Insulin receptor gene polymorphisms in type 2 (non-insulin-dependent) diabetes mellitus. 2065860 1991
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
Entrez Id: 3643
Gene Symbol: INSR
INSR
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
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 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
Entrez Id: 3643
Gene Symbol: INSR
INSR
0.700 Biomarker disease BEFREE We investigated intracellular processing of the insulin-receptor complex in monocytes from 12 healthy control subjects, 11 obese nondiabetic subjects, and 13 obese patients with non-insulin-dependent diabetes mellitus (NIDDM) by measuring receptor internalization, recovery of cell-surface insulin binding after receptor internalization, and the release of intracellular intact insulin (insulin retroendocytosis). 2684714 1989