Source: CLINVAR

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
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: 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 Evaluation of Structural Progression in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. 28097316

2017
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: 5318
Gene Symbol: PKP2
PKP2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 CausalMutation CLINVAR Clinical Presentation, Long-Term Follow-Up, and Outcomes of 1001 Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Patients and Family Members. 25820315

2015
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: 5318
Gene Symbol: PKP2
PKP2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 CausalMutation CLINVAR Reply: The MOGE(S) classification for a phenotype-genotype nomenclature of cardiomyopathy: more questions than answers? 24768880

2014
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: 5318
Gene Symbol: PKP2
PKP2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		0.100 CausalMutation CLINVAR Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations. 21723241

2011
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
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 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 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