Source: ALL

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 4625
Gene Symbol: MYH7
MYH7
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 GeneticVariation CLINVAR

Entrez Id: 287
Gene Symbol: ANK2
ANK2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 GeneticVariation CLINVAR

Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 CausalMutation CLINVAR Truncating plakophilin-2 mutations in arrhythmogenic cardiomyopathy are associated with protein haploinsufficiency in both myocardium and epidermis. 24704780

2014
Entrez Id: 4361
Gene Symbol: MRE11
MRE11
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 CausalMutation CLINVAR

Entrez Id: 825
Gene Symbol: CAPN3
CAPN3
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 CausalMutation CLINVAR

Entrez Id: 5518
Gene Symbol: PPP2R1A
PPP2R1A
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 GeneticVariation CLINVAR

Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 CausalMutation CLINVAR Characterization of the molecular phenotype of two arrhythmogenic right ventricular cardiomyopathy (ARVC)-related plakophilin-2 (PKP2) mutations. 19084810

2008
Entrez Id: 128989
Gene Symbol: TANGO2
TANGO2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 CausalMutation CLINVAR Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. 26805781

2016
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 GeneticVariation CLINVAR

Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257

2017
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 GeneticVariation CLINVAR

Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 CausalMutation CLINVAR Exploring digenic inheritance in arrhythmogenic cardiomyopathy. 29221435

2017
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 CausalMutation CLINVAR Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy. 20857253

2010
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 CausalMutation CLINVAR Compound and digenic heterozygosity contributes to arrhythmogenic right ventricular cardiomyopathy. 20152563

2010
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 CausalMutation CLINVAR Recurrent and founder mutations in the Netherlands : Plakophilin-2 p.Arg79X mutation causing arrhythmogenic right ventricular cardiomyopathy/dysplasia. 21301620

2010
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 CausalMutation CLINVAR Studying arrhythmogenic right ventricular dysplasia with patient-specific iPSCs. 23354045

2013
Entrez Id: 55800
Gene Symbol: SCN3B
SCN3B
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 CausalMutation CLINVAR Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young. 27435932

2016
Entrez Id: 6262
Gene Symbol: RYR2
RYR2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 GeneticVariation CLINVAR

Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 CausalMutation CLINVAR Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. 20031617

2009
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 CausalMutation CLINVAR Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. 16567567

2006
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 CausalMutation CLINVAR Maturation-Based Model of Arrhythmogenic Right Ventricular Dysplasia Using Patient-Specific Induced Pluripotent Stem Cells. 25971409

2015
Entrez Id: 1832
Gene Symbol: DSP
DSP
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 CausalMutation CLINVAR

Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 GeneticVariation CLINVAR

Entrez Id: 84231
Gene Symbol: TRAF7
TRAF7
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 CausalMutation CLINVAR

Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 CausalMutation CLINVAR Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study. 20031616

2009