Disease: Congenital Hyperinsulinism ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Congenital Hyperinsulinism
CUI: C3888018
Disease: Congenital Hyperinsulinism
0.010 GeneticVariation BEFREE Unlike the GK-MODY mutants, four of five GK-PHHI mutants had similar specific activity to wild type and Y214C had higher activity than wild type. 22028181 2011