rs121908991, PRKAG2

N. diseases: 6
Disease: Glycogen storage disease, type IX ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Glycogen storage disease, type IX
CUI: C0268147
Disease: Glycogen storage disease, type IX
0.020 GeneticVariation BEFREE The report of a pathogenic mutation (R531Q) in the gene (PRKAG2) encoding the gamma2 subunit of AMP-activated protein kinase (AMPK) in three infants with congenital hypertrophic cardiomyopathy, glycogen storage, and "pseudo PHK deficiency" prompted us to screen this gene in our patient. 17667862 2007
Glycogen storage disease, type IX
CUI: C0268147
Disease: Glycogen storage disease, type IX
0.020 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