rs121908991, PRKAG2

N. diseases: 6
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
0.800 CausalMutation CLINVAR Physiological Expression of AMPKγ2RG Mutation Causes Wolff-Parkinson-White Syndrome and Induces Kidney Injury in Mice. 27621313 2016
Glycogen Storage Disease of Heart, Lethal Congenital
CUI: C1849813
Disease: Glycogen Storage Disease of Heart, Lethal Congenital
0.800 CausalMutation CLINVAR Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity. 25611685 2015
Glycogen Storage Disease of Heart, Lethal Congenital
CUI: C1849813
Disease: Glycogen Storage Disease of Heart, Lethal Congenital
0.800 GeneticVariation UNIPROT Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. 15877279 2005
Glycogen Storage Disease of Heart, Lethal Congenital
CUI: C1849813
Disease: Glycogen Storage Disease of Heart, Lethal Congenital
0.800 CausalMutation CLINVAR Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency. 15877279 2005
Glycogen Storage Disease of Heart, Lethal Congenital
CUI: C1849813
Disease: Glycogen Storage Disease of Heart, Lethal Congenital
0.800 CausalMutation CLINVAR CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations. 14722619 2004
Glycogen Storage Disease of Heart, Lethal Congenital
CUI: C1849813
Disease: Glycogen Storage Disease of Heart, Lethal Congenital
0.800 CausalMutation CLINVAR Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy. 11748095 2001
Glycogen Storage Disease of Heart, Lethal Congenital
CUI: C1849813
Disease: Glycogen Storage Disease of Heart, Lethal Congenital
0.800 CausalMutation CLINVAR