Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0021290
Disease: Neonatal disorder
Neonatal disorder
0.010 Biomarker group BEFREE Loss of channel function because of mutations in Kir6.2 or its associated regulatory subunit, sulfonylurea receptor 1, causes congenital hyperinsulinism (CHI), a neonatal disease characterized by persistent insulin secretion despite severe hypoglycemia. 18250167 2008