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: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		T 0.700 CausalMutation CLINVAR Identification and functional analysis of a novel PRKAG2 mutation responsible for Chinese PRKAG2 cardiac syndrome reveal an important role of non-CBS domains in regulating the AMPK pathway. 23778007

2013
dbSNP: rs121908987
rs121908987
PRKAG2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		T 0.700 CausalMutation CLINVAR Chronic AMPK activity dysregulation produces myocardial insulin resistance in the human Arg302Gln-PRKAG2 glycogen storage disease mouse model. 23829931

2013
dbSNP: rs121908987
rs121908987
PRKAG2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		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: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		T 0.700 CausalMutation CLINVAR Nodoventricular accessory pathways in PRKAG2-dependent familial preexcitation syndrome reveal a disorder in cardiac development. 19808419

2008
dbSNP: rs121908987
rs121908987
PRKAG2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		T 0.700 CausalMutation CLINVAR A familial form of conduction defect related to a mutation in the PRKAG2 gene. 17483151

2007
dbSNP: rs121908987
rs121908987
PRKAG2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		T 0.700 CausalMutation CLINVAR [Same genotype and different phenotypes in a family with PRKAG2 gene mutation]. 17711718

2007
dbSNP: rs121908987
rs121908987
PRKAG2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		T 0.700 CausalMutation CLINVAR Familial pseudo-Wolff-Parkinson-White syndrome. 16836667

2006
dbSNP: rs121908987
rs121908987
PRKAG2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		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: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		T 0.700 CausalMutation CLINVAR CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations. 14722619

2004
dbSNP: rs121908987
rs121908987
PRKAG2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		T 0.700 CausalMutation CLINVAR Although the cardiac pathology caused by PRKAG2 mutations Arg302Gln, Thr400Asn, and Asn488Ile include myocyte enlargement and minimal interstitial fibrosis, these mutations were not associated with myocyte and myofibrillar disarray, the pathognomonic features of hypertrophic cardiomyopathy caused by sarcomere protein mutations. 11827995

2002
dbSNP: rs121908987
rs121908987
PRKAG2
CUI: C0007194
Disease: Hypertrophic Cardiomyopathy
Hypertrophic Cardiomyopathy 		T 0.700 CausalMutation CLINVAR Identification of a gene responsible for familial Wolff-Parkinson-White syndrome. 11407343

2001