Disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4274081
Disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency 		0.300 GermlineCausalMutation disease ORPHANET Molecular mechanisms of congenital hyperinsulinism. 25733449 2015
CUI: C4274081
Disease: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency 		0.300 GermlineCausalMutation disease ORPHANET Clinical characteristics and biochemical mechanisms of congenital hyperinsulinism associated with dominant KATP channel mutations. 18596924 2008