Disease: Wolff-Parkinson-White Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908991
rs121908991
Entrez Id: 51422
Gene Symbol: PRKAG2
PRKAG2
CUI: C0043202
Disease:
Wolff-Parkinson-White Syndrome 		0.010 GeneticVariation BEFREE Thus, recurrent heterozygous R531Q missense mutations in PRKAG2 give rise to a massive nonlysosomal cardiac glycogenosis of fetal symptomatic onset and rapidly fatal course, constituting a genotypically and clinically distinct variant of hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome. 15877279 2005