Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance
0.400 CausalMutation phenotype CLINVAR Sequencing analysis of insulin receptor defects and detection of two novel mutations in INSR gene. 27896077 2014
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance
0.400 Biomarker phenotype CTD_human Rosiglitazone treatment of patients with extreme insulin resistance and diabetes mellitus due to insulin receptor mutations has no effects on glucose and lipid metabolism. 11887975 2002
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance
0.400 Biomarker phenotype CTD_human Loss of insulin signaling in hepatocytes leads to severe insulin resistance and progressive hepatic dysfunction. 10949030 2000
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance
0.400 CausalMutation phenotype CLINVAR Tyrosine kinase-deficient mutant human insulin receptors (Met1153-->Ile) overexpressed in transfected rat adipose cells fail to mediate translocation of epitope-tagged GLUT4. 8202531 1994
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance
0.400 CausalMutation phenotype CLINVAR Substitution of isoleucine for methionine at position 1153 in the beta-subunit of the human insulin receptor. A mutation that impairs receptor tyrosine kinase activity, receptor endocytosis, and insulin action. 1314826 1992
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance
0.400 CausalMutation phenotype CLINVAR Functional properties of a naturally occurring Trp1200----Ser1200 mutation of the insulin receptor. 1963473 1991
CUI: C0021655
Disease: Insulin Resistance
Insulin Resistance
0.400 CausalMutation phenotype CLINVAR A mutation in the tyrosine kinase domain of the insulin receptor associated with insulin resistance in an obese woman. 1890161 1991