rs121908991, PRKAG2

N. diseases: 6
Disease: Deficiency of phosphorylase kinase ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Deficiency of phosphorylase kinase
CUI: C1291390
Disease: Deficiency of phosphorylase kinase
0.010 GeneticVariation BEFREE Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. 15877279 2005