Source: CLINVAR

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908987
rs121908987
PRKAG2
CUI: C1849813
Disease: Glycogen Storage Disease of Heart, Lethal Congenital
Glycogen Storage Disease of Heart, Lethal Congenital 		T 0.700 CausalMutation CLINVAR Using exome sequencing to identify the cause of myocardial hypertrophy in a Chinese family. 25997934

2015
dbSNP: rs121908987
rs121908987
PRKAG2
CUI: C1849813
Disease: Glycogen Storage Disease of Heart, Lethal Congenital
Glycogen Storage Disease of Heart, Lethal Congenital 		T 0.700 CausalMutation CLINVAR Overexpression of G100S mutation in PRKAG2 causes Wolff-Parkinson-White syndrome in zebrafish. 23992123

2014
dbSNP: rs121908987
rs121908987
PRKAG2
CUI: C1849813
Disease: Glycogen Storage Disease of Heart, Lethal Congenital
Glycogen Storage Disease of Heart, Lethal Congenital 		T 0.700 CausalMutation CLINVAR Distinct early signaling events resulting from the expression of the PRKAG2 R302Q mutant of AMPK contribute to increased myocardial glycogen. 20031621

2009
dbSNP: rs121908987
rs121908987
PRKAG2
CUI: C1849813
Disease: Glycogen Storage Disease of Heart, Lethal Congenital
Glycogen Storage Disease of Heart, Lethal Congenital 		T 0.700 CausalMutation CLINVAR Familial pseudo-Wolff-Parkinson-White syndrome. 16836667

2006
dbSNP: rs121908987
rs121908987
PRKAG2
CUI: C1849813
Disease: Glycogen Storage Disease of Heart, Lethal Congenital
Glycogen Storage Disease of Heart, Lethal Congenital 		T 0.700 CausalMutation CLINVAR Transgenic mouse model of ventricular preexcitation and atrioventricular reentrant tachycardia induced by an AMP-activated protein kinase loss-of-function mutation responsible for Wolff-Parkinson-White syndrome. 15611370

2005
dbSNP: rs121908987
rs121908987
PRKAG2
CUI: C1849813
Disease: Glycogen Storage Disease of Heart, Lethal Congenital
Glycogen Storage Disease of Heart, Lethal Congenital 		T 0.700 CausalMutation CLINVAR CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations. 14722619

2004