Disease: Ventricular preexcitation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0559106
Disease: Ventricular preexcitation
Ventricular preexcitation 		0.200 GeneticVariation disease BEFREE In conclusion, molecular screening for PRKAG2 mutations should be considered in patients who exhibit cardiac hypertrophy coexisting with ventricular pre-excitation. 28546535 2017
CUI: C0559106
Disease: Ventricular preexcitation
Ventricular preexcitation 		0.200 GeneticVariation disease BEFREE Mutations in PRKAG2, the gene encoding for the γ2 subunit of 5'-AMP-activated protein kinase (AMPK), are responsible for an autosomal dominant glycogenosis with a cardiac presentation, associating hypertrophic cardiomyopathy (HCM), ventricular pre-excitation (VPE), and progressive heart block. 28431061 2017
CUI: C0559106
Disease: Ventricular preexcitation
Ventricular preexcitation 		0.200 Biomarker disease BEFREE Missense mutations in the regulatory subunit, PRKAG2, activate AMPK and cause left ventricular hypertrophy, glycogen accumulation, and ventricular pre-excitation. 28009297 2016
CUI: C0559106
Disease: Ventricular preexcitation
Ventricular preexcitation 		0.200 GeneticVariation disease BEFREE Mutations in γ2 subunit (PRKAG2) have been associated with a cardiac syndrome including inherited ventricular preexcitation, conduction disorder and hypertrophy mimicking hypertrophic cardiomyopathy. 23741347 2013
CUI: C0559106
Disease: Ventricular preexcitation
Ventricular preexcitation 		0.200 GeneticVariation disease BEFREE Preexcitation associated with the R302Q mutation in PRKAG2 is associated with Mahaim fibers. 19808419 2008
CUI: C0559106
Disease: Ventricular preexcitation
Ventricular preexcitation 		0.200 GeneticVariation disease BEFREE We identified a G to A transition, resulting in a Glu506Lys substitution in the PRKAG2 gene in 8 of the family members, who all had cardiac hypertrophy and ventricular pre-excitation. 16716659 2006
CUI: C0559106
Disease: Ventricular preexcitation
Ventricular preexcitation 		0.200 GeneticVariation disease BEFREE PRKAG2 plays a role in regulating metabolic pathways, and mutations in this gene are associated with familial ventricular preexcitation, hypertrophic cardiomyopathy, and atrioventricular conduction disturbances. 16836667 2006
CUI: C0559106
Disease: Ventricular preexcitation
Ventricular preexcitation 		0.200 GeneticVariation disease BEFREE Our data establish PRKAG2 mutations as a glycogen storage cardiomyopathy, provide an anatomic explanation for electrophysiological findings, and implicate disruption of the annulus fibrosis by glycogen-engorged myocytes as the cause of preexcitation in Pompe, Danon, and other glycogen storage diseases. 12782567 2003
CUI: C0559106
Disease: Ventricular preexcitation
Ventricular preexcitation 		0.200 Biomarker disease BEFREE PRKAG2 cardiac syndrome: familial ventricular preexcitation, conduction system disease, and cardiac hypertrophy. 12015471 2002
CUI: C0559106
Disease: Ventricular preexcitation
Ventricular preexcitation 		0.200 GeneticVariation disease BEFREE Mutations in PRKAG2, the gene for the gamma 2 regulatory subunit of AMP-activated protein kinase, cause cardiac hypertrophy and electrophysiologic abnormalities, particularly preexcitation (Wolff-Parkinson-White syndrome) and atrioventricular conduction block. 11827995 2002
CUI: C0559106
Disease: Ventricular preexcitation
Ventricular preexcitation 		0.200 GeneticVariation disease BEFREE We identified a novel mutation (Arg531Gly) in the gamma-2 regulatory subunit (PRKAG2) of AMP-activated protein kinase (AMPK) to be responsible for a syndrome associated with ventricular preexcitation and early onset of atrial fibrillation and conduction disease. 11748095 2001
CUI: C0559106
Disease: Ventricular preexcitation
Ventricular preexcitation 		0.200 Biomarker disease HPO