INSR, insulin receptor, 3643

N. diseases: 452; N. variants: 109
Disease: Hyperinsulinemic hypoglycemia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1864903
Disease: Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia 		0.130 GeneticVariation disease BEFREE Sequence analysis of IR gene in two patients with adult-onset hyperinsulinemic hypoglycemia and their relatives were performed, and the mutant gene observed in one case was analyzed. 25753915 2015
CUI: C1864903
Disease: Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia 		0.130 GeneticVariation disease BEFREE R1174 of the IR gene may be a candidate locus for hyperinsulinaemic hypoglycaemia. 19170714 2009
CUI: C1864903
Disease: Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia 		0.130 GeneticVariation disease BEFREE A novel syndrome of autosomal-dominant hyperinsulinemic hypoglycemia linked to a mutation in the human insulin receptor gene. 15161766 2004
CUI: C1864903
Disease: Hyperinsulinemic hypoglycemia
Hyperinsulinemic hypoglycemia 		0.130 Biomarker disease HPO