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

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

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

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: 4000
Gene Symbol: LMNA
LMNA
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 GeneticVariation CLINVAR

Entrez Id: 1837
Gene Symbol: DTNA
DTNA
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 GeneticVariation CLINVAR

Entrez Id: 775
Gene Symbol: CACNA1C
CACNA1C
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 GeneticVariation CLINVAR

Entrez Id: 6324
Gene Symbol: SCN1B
SCN1B
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 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 Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy. 17010805

2006
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 CausalMutation CLINVAR Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. 16549640

2006
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: 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 Desmoglein-2 and desmocollin-2 mutations in dutch arrhythmogenic right ventricular dysplasia/cardiomypathy patients: results from a multicenter study. 20031616

2009
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 The p.A897KfsX4 frameshift variation in desmocollin-2 is not a causative mutation in arrhythmogenic right ventricular cardiomyopathy. 20197793

2010