rs121908987, PRKAG2

N. diseases: 12
Disease: Glycogen Storage Disease of Heart, Lethal Congenital ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Glycogen Storage Disease of Heart, Lethal Congenital
CUI: C1849813
Disease: Glycogen Storage Disease of Heart, Lethal Congenital
0.700 CausalMutation CLINVAR Using exome sequencing to identify the cause of myocardial hypertrophy in a Chinese family. 25997934 2015
Glycogen Storage Disease of Heart, Lethal Congenital
CUI: C1849813
Disease: Glycogen Storage Disease of Heart, Lethal Congenital
0.700 CausalMutation CLINVAR Overexpression of G100S mutation in PRKAG2 causes Wolff-Parkinson-White syndrome in zebrafish. 23992123 2014
Glycogen Storage Disease of Heart, Lethal Congenital
CUI: C1849813
Disease: Glycogen Storage Disease of Heart, Lethal Congenital
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
Glycogen Storage Disease of Heart, Lethal Congenital
CUI: C1849813
Disease: Glycogen Storage Disease of Heart, Lethal Congenital
0.700 CausalMutation CLINVAR Familial pseudo-Wolff-Parkinson-White syndrome. 16836667 2006
Glycogen Storage Disease of Heart, Lethal Congenital
CUI: C1849813
Disease: Glycogen Storage Disease of Heart, Lethal Congenital
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
Glycogen Storage Disease of Heart, Lethal Congenital
CUI: C1849813
Disease: Glycogen Storage Disease of Heart, Lethal Congenital
0.700 CausalMutation CLINVAR CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations. 14722619 2004