Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 801
Gene Symbol: CALM1
CALM1
0.740 Biomarker disease CTD_human
Entrez Id: 10345
Gene Symbol: TRDN
TRDN
0.740 GeneticVariation disease CLINVAR
Entrez Id: 801
Gene Symbol: CALM1
CALM1
0.740 GeneticVariation disease CLINVAR
Entrez Id: 10345
Gene Symbol: TRDN
TRDN
0.740 Biomarker disease CTD_human
Entrez Id: 845
Gene Symbol: CASQ2
CASQ2
0.700 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 253017
Gene Symbol: TECRL
TECRL
0.520 Biomarker disease CTD_human
Entrez Id: 808
Gene Symbol: CALM3
CALM3
0.340 GeneticVariation disease ORPHANET
Entrez Id: 287
Gene Symbol: ANK2
ANK2
0.320 Biomarker disease GENOMICS_ENGLAND
Entrez Id: 2281
Gene Symbol: FKBP1B
FKBP1B
0.210 Biomarker disease MGD
Entrez Id: 101927990
Gene Symbol: TRDN-AS1
TRDN-AS1
0.100 GeneticVariation disease CLINVAR
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
1.000 GeneticVariation disease CLINVAR "Crystal structure of type I ryanodine receptor amino-terminal beta-trefoil domain reveals a disease-associated mutation ""hot spot"" loop." 19541610 2009
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
1.000 GeneticVariation disease BEFREE Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a familial arrhythmogenic disorder associated with mutations in the cardiac ryanodine receptor (RyR2) and cardiac calsequestrin (CASQ2) genes. 16601229 2006
Entrez Id: 845
Gene Symbol: CASQ2
CASQ2
0.700 GeneticVariation disease BEFREE Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a familial arrhythmogenic disorder associated with mutations in the cardiac ryanodine receptor (RyR2) and cardiac calsequestrin (CASQ2) genes. 16601229 2006
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
1.000 GeneticVariation disease BEFREE Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a familial cardiac arrhythmia that is related to RYR2 or CASQ2 gene mutation. 19568611 2009
Entrez Id: 845
Gene Symbol: CASQ2
CASQ2
0.700 GeneticVariation disease BEFREE Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a familial cardiac arrhythmia that is related to RYR2 or CASQ2 gene mutation. 19568611 2009
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
1.000 GeneticVariation disease BEFREE Catecholaminergic Polymorphic Ventricular Tachycardia (CPVT) Associated With Ryanodine Receptor (RyR2) Gene Mutations - Long-Term Prognosis After Initiation of Medical Treatment. 27452199 2016
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
1.000 GeneticVariation disease BEFREE RyR2 mutations suggested to cause defective Ca2+ channel function have recently been identified in catecholaminergic polymorphic ventricular tachycardia (CPVT) and arrhythmogenic right ventricular dysplasia (ARVD) affected individuals. 12919952 2003
Entrez Id: 287
Gene Symbol: ANK2
ANK2
0.320 GeneticVariation disease BEFREE Ankyrin-B mutations may also be implicated in catecholaminergic polymorphic VT: mutations in this gene were previously linked to the long-QT 4 phenotype. 15840485 2005
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
1.000 GeneticVariation disease BEFREE RyR2 mutations were detected frequently in CPVT but not in other diseases. 16843546 2007
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
1.000 GeneticVariation disease BEFREE RyR2 F2483I mutant myocytes have aberrant unitary Ca(2+)-signaling, smaller Ca(2+)-stores, higher CICR gains, and sensitized adrenergic regulation, consistent with functionally altered Ca(2+)-release profile of CPVT syndrome. 23684427 2013
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
1.000 GeneticVariation disease BEFREE Ryanodine receptor 2 (RYR2) gene mutations usually cause catecholaminergic polymorphic ventricular tachycardia but have been associated with a peculiar phenotype named ARVC2. 25041964 2014
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
1.000 GeneticVariation disease BEFREE A 31-year-old female with syncope at rest and recurrent short-coupled premature ventricular contractions (PVCs) initiating PMVT was found to be heterozygous for a novel RyR2-H29D mutation. 25463374 2015
Entrez Id: 3759
Gene Symbol: KCNJ2
KCNJ2
0.360 GeneticVariation disease BEFREE A 33-year-old woman presented with a catecholaminergic polymorphic ventricular tachycardia-like clinical phenotype and was found to have KCNJ2 missense mutation R67Q. 24561538 2014
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
1.000 Biomarker disease BEFREE A cardiac channel molecular autopsy was performed on 2 individuals who died of unexplained drowning and whose cases were referred to the Sudden Death Genomics Laboratory at the Mayo Clinic in Rochester, Minn. Comprehensive mutational analysis of all 60 protein-encoded exons of the 5 long QT syndrome-causing cardiac channel genes and a targeted analysis of 18 RyR2 exons known to host RyR2-mediated CPVT-causing mutations (CPVT1) was performed using polymerase chain reaction, denaturing high-performance liquid chromatography, and DNA sequencing. 15887426 2005
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
1.000 Biomarker disease BEFREE A computational model of mouse ventricular cardiomyocyte electrophysiology reproduced the cellular CPVT1 phenotype when RyR2 Ca2+ sensitivity was increased. 30399185 2018