Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6262
Gene Symbol: RYR2
RYR2 		0.910 Biomarker disease GENOMICS_ENGLAND Interpreting Incidentally Identified Variants in Genes Associated With Catecholaminergic Polymorphic Ventricular Tachycardia in a Large Cohort of Clinical Whole-Exome Genetic Test Referrals. 28404607 2017
Entrez Id: 6262
Gene Symbol: RYR2
RYR2 		0.910 Biomarker disease GENOMICS_ENGLAND Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young. 27114410 2016
Entrez Id: 6262
Gene Symbol: RYR2
RYR2 		0.910 Biomarker disease GENOMICS_ENGLAND Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features. 17875969 2007
Entrez Id: 6262
Gene Symbol: RYR2
RYR2 		0.910 Biomarker disease GENOMICS_ENGLAND Mechanisms of Disease: ryanodine receptor defects in heart failure and fatal arrhythmia. 16391617 2006
Entrez Id: 6262
Gene Symbol: RYR2
RYR2 		0.910 Biomarker disease MGD Mice with the R176Q cardiac ryanodine receptor mutation exhibit catecholamine-induced ventricular tachycardia and cardiomyopathy. 16873551 2006
Entrez Id: 6262
Gene Symbol: RYR2
RYR2 		0.910 Biomarker disease GENOMICS_ENGLAND Short QT syndrome. 16301704 2005
Entrez Id: 6262
Gene Symbol: RYR2
RYR2 		0.910 GeneticVariation disease BEFREE Recently, several groups have delineated the functional effects of the RyR2 mutations associated with CPVT and ARVD2. 15176428 2004
Entrez Id: 6262
Gene Symbol: RYR2
RYR2 		0.910 GeneticVariation disease UNIPROT Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2). 11159936 2001
Entrez Id: 6262
Gene Symbol: RYR2
RYR2 		0.910 Biomarker disease CTD_human
Entrez Id: 6262
Gene Symbol: RYR2
RYR2 		0.910 CausalMutation disease CLINVAR
Entrez Id: 11155
Gene Symbol: LDB3
LDB3 		0.300 GermlineCausalMutation disease ORPHANET A mutation in the Z-line Cypher/ZASP protein is associated with arrhythmogenic right ventricular cardiomyopathy. 25041374 2015
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.300 GermlineCausalMutation disease ORPHANET Clinical utility gene card for: arrhythmogenic right ventricular cardiomyopathy (ARVC). 23736219 2014
Entrez Id: 29119
Gene Symbol: CTNNA3
CTNNA3 		0.300 GermlineCausalMutation disease ORPHANET Mutations in the area composita protein αT-catenin are associated with arrhythmogenic right ventricular cardiomyopathy. 23136403 2013
Entrez Id: 4000
Gene Symbol: LMNA
LMNA 		0.300 GermlineCausalMutation disease ORPHANET Mutations in the Lamin A/C gene mimic arrhythmogenic right ventricular cardiomyopathy. 22199124 2012
Entrez Id: 7273
Gene Symbol: TTN
TTN 		0.300 GermlineCausalMutation disease ORPHANET Genetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes. 21810661 2011
Entrez Id: 7043
Gene Symbol: TGFB3
TGFB3 		0.010 Biomarker disease BEFREE Since both loci ARVD1 and ARVD2 map in proximity of alpha-actinin genes, the possible implication of these myofibrillar proteins in the pathogenesis of ARVD is discussed. 8589694 1995