IRS1, insulin receptor substrate 1, 3667

N. diseases: 233; N. variants: 15
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 Biomarker disease HPO
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 CausalMutation disease CLINVAR
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance 		0.400 Biomarker phenotype HPO
CUI: C1840169
Disease: CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO
CORONARY ARTERY DISEASE, SUSCEPTIBILITY TO 		0.100 SusceptibilityMutation disease CLINVAR
CUI: C1852091
Disease: INSULIN RESISTANCE, SUSCEPTIBILITY TO
INSULIN RESISTANCE, SUSCEPTIBILITY TO 		0.100 SusceptibilityMutation disease CLINVAR
CUI: C4703555
Disease: Decreased waist to hip ratio
Decreased waist to hip ratio 		0.100 Biomarker phenotype HPO
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.400 AlteredExpression disease BEFREE Higher levels of hIRS-1 gene transcripts were observed in HCC tumors compared to adjacent non-involved normal liver. 1311924 1992
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.400 Biomarker disease CTD_human Higher levels of hIRS-1 gene transcripts were observed in HCC tumors compared to adjacent non-involved normal liver. 1311924 1992
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.100 AlteredExpression group BEFREE Higher levels of hIRS-1 gene transcripts were observed in HCC tumors compared to adjacent non-involved normal liver. 1311924 1992
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.020 Biomarker disease BEFREE The irs2 mutant has the strongest links to A-T cells, through its sensitivity profile to DNA-damaging agents and radioresistant DNA synthesis, but irs1 in particular has other similarities to A-T. 2308592 1990
CUI: C0004135
Disease: Ataxia Telangiectasia
Ataxia Telangiectasia 		0.020 GeneticVariation disease BEFREE Available data are reviewed to show that, compared to their respective wild-type counterparts: (1) an ataxia telangiectasia (A-T) cell line and the hamster irs1 mutant show a consistent reduction in the fidelity of rejoining double-strand breaks (while the hamster mutants irs2, irs3, xrs series, and EM9 show wild-type fidelity); (2) the hamster EM9 mutant shows a reduction in ability to recombine homologous vector fragments (while the A-T line and probably the xrs mutants show show wild-type abilities); and (3) the xrs mutants show a reduction in overall transformation frequency with vector DNA, whether broken or not, while the other mutants tested show approximately wild-type frequencies. 2538739 1989
CUI: C2239176
Disease: Liver carcinoma
Liver carcinoma 		0.400 Biomarker disease BEFREE These investigations explored the effect of ethanol additions on the expression and tyrosyl phosphorylation (TP) of p36 and IRS-1 in a human hepatocellular carcinoma cell line (FOCUS) in relationship to cell proliferation induced by IN and serum growth factor stimulation. 7542850 1995
CUI: C0028754
Disease: Obesity
Obesity 		0.600 GeneticVariation disease BEFREE Our results suggest that the codon-972 IRS-1 gene variant may interact with obesity in the pathogenesis of common insulin-resistant disorders. 7623569 1995
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 GeneticVariation disease BEFREE Amino acid polymorphisms of the insulin receptor substrate-1 in Japanese noninsulin-dependent diabetes mellitus. 7673430 1995
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 GeneticVariation disease BEFREE The GLUT2 and IRS1 amino acid polymorphisms did not show a simple pattern of co-inheritance with NIDDM in the families of these subjects suggesting that neither polymorphism is sufficient to cause NIDDM but may increase diabetes-susceptibility through their interaction with other loci and environmental factors. 7713316 1995
CUI: C0011849
Disease: Diabetes Mellitus
Diabetes Mellitus 		0.400 GeneticVariation group BEFREE The GLUT2 and IRS1 amino acid polymorphisms did not show a simple pattern of co-inheritance with NIDDM in the families of these subjects suggesting that neither polymorphism is sufficient to cause NIDDM but may increase diabetes-susceptibility through their interaction with other loci and environmental factors. 7713316 1995
CUI: C0011847
Disease: Diabetes
Diabetes 		0.100 GeneticVariation disease BEFREE The GLUT2 and IRS1 amino acid polymorphisms did not show a simple pattern of co-inheritance with NIDDM in the families of these subjects suggesting that neither polymorphism is sufficient to cause NIDDM but may increase diabetes-susceptibility through their interaction with other loci and environmental factors. 7713316 1995
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 GeneticVariation disease BEFREE The purpose of this study was to examine the role of the IRS-1 missense mutations at codons 972 (glycine to arginine) and 513 (alanine to proline) in two diverse populations from South India and Finland at high risk for NIDDM. 7796990 1995
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 Biomarker disease MGD Insulin resistance and growth retardation in mice lacking insulin receptor substrate-1. 7969452 1994
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 GeneticVariation disease BEFREE These observations suggest that mutations in the IRS-1 gene may play a causal role in the pathogenesis of NIDDM. 7989470 1994
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 GeneticVariation disease BEFREE We conclude that the tandem repeat polymorphism in the glycogen synthase gene and the polymorphisms at codons 513 and 972 of the IRS-1 gene are not associated with a higher risk for the development of NIDDM in Japanese subjects. 8037748 1994
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 GeneticVariation disease BEFREE Insulin receptor substrate-1 variants in non-insulin-dependent diabetes. 8083355 1994
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 Biomarker disease BEFREE Analysis of the phenotypes showed that patients with NIDDM who had IRS-1 variants did not differ in their degree of insulin resistance compared with patients without known IRS-1 polymorphisms. 8104271 1993
CUI: C0011860
Disease: Diabetes Mellitus, Non-Insulin-Dependent
Diabetes Mellitus, Non-Insulin-Dependent 		0.900 Biomarker disease CTD_human Analysis of the phenotypes showed that patients with NIDDM who had IRS-1 variants did not differ in their degree of insulin resistance compared with patients without known IRS-1 polymorphisms. 8104271 1993
CUI: C0035412
Disease: Rhabdomyosarcoma
Rhabdomyosarcoma 		0.010 Biomarker disease BEFREE There were 1,770 patients with primary RMS entered onto IRS I and II between 1972 and 1984. 8426203 1993