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
CUI: C1257963
Disease: Endogenous Hyperinsulinism
Endogenous Hyperinsulinism
0.300 Biomarker disease CTD_human Two novel mutations in the insulin binding subunit of the insulin receptor gene without insulin binding impairment in a patient with Rabson-Mendenhall syndrome. 18411068 2008
CUI: C1257963
Disease: Endogenous Hyperinsulinism
Endogenous Hyperinsulinism
0.300 Biomarker disease CTD_human Loss of insulin signaling in hepatocytes leads to severe insulin resistance and progressive hepatic dysfunction. 10949030 2000