rs121908987
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
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
rs121908987
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
T
0.700
CausalMutation
CLINVAR
Nodoventricular accessory pathways in PRKAG2-dependent familial preexcitation syndrome reveal a disorder in cardiac development.
19808419
2008
rs121908987
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
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
rs121908987
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
T
0.700
CausalMutation
CLINVAR
[Same genotype and different phenotypes in a family with PRKAG2 gene mutation].
17711718
2007
rs121908987
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
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
rs121908987
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
T
0.700
CausalMutation
CLINVAR
A familial form of conduction defect related to a mutation in the PRKAG2 gene.
17483151
2007
rs121908987
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
T
0.700
CausalMutation
CLINVAR
Identification of a gene responsible for familial Wolff-Parkinson-White syndrome.
11407343
2001
rs121908987
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
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
rs121908987
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
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
rs121908987
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
Hypertrophic Cardiomyopathy
T
0.700
CausalMutation
CLINVAR
Familial pseudo-Wolff-Parkinson-White syndrome.
16836667
2006
rs121908987
×
Entrez Id:
51422
Gene Symbol:
PRKAG2
PRKAG2
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