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: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 CausalMutation CLINVAR Implantable Cardioverter-Defibrillator Therapy in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Predictors of Appropriate Therapy, Outcomes, and Complications. 28588093

2017
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 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: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 GeneticVariation 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: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 CausalMutation CLINVAR Arrhythmogenic Right Ventricular Cardiomyopathy - 4 Swedish families with an associated PKP2 c.2146-1G>C variant. 27335691

2016
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 CausalMutation CLINVAR Patient Outcomes From a Specialized Inherited Arrhythmia Clinic. 26743238

2016
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 CausalMutation CLINVAR Loss of plakoglobin immunoreactivity in intercalated discs in arrhythmogenic right ventricular cardiomyopathy: protein mislocalization versus epitope masking. 26676851

2016
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 CausalMutation CLINVAR Sequenom MassARRAY approach in the arrhythmogenic right ventricular cardiomyopathy post-mortem setting: clinical and forensic implications. 24832006

2015
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 CausalMutation CLINVAR Comprehensive analysis of desmosomal gene mutations in Han Chinese patients with arrhythmogenic right ventricular cardiomyopathy. 25765472

2015
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 CausalMutation CLINVAR Novel frame-shift mutation in PKP2 associated with arrhythmogenic right ventricular cardiomyopathy: a case report. 26701096

2015
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 CausalMutation CLINVAR Arrhythmogenic right ventricular dysplasia/cardiomyopathy and cardiac sarcoidosis: distinguishing features when the diagnosis is unclear. 24585727

2014
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 CausalMutation CLINVAR Stop-gain mutations in PKP2 are associated with a later age of onset of arrhythmogenic right ventricular cardiomyopathy. 24967631

2014
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 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: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 CausalMutation CLINVAR The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience. 24784157

2014
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 CausalMutation CLINVAR Post-mortem genetic analysis in juvenile cases of sudden cardiac death. 25447171

2014
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 CausalMutation CLINVAR Functional assessment of potential splice site variants in arrhythmogenic right ventricular dysplasia/cardiomyopathy. 25087486

2014
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 CausalMutation CLINVAR An adolescent with possible arrhythmogenic right ventricular dysplasia and long QT syndrome: evaluation and management. 23347029

2013
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 CausalMutation CLINVAR Arrhythmogenic right ventricular dysplasia/cardiomyopathy according to revised 2010 task force criteria with inclusion of non-desmosomal phospholamban mutation carriers. 23871674

2013
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 CausalMutation CLINVAR TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations. 23812740

2013
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 CausalMutation CLINVAR Modeling of arrhythmogenic right ventricular cardiomyopathy with human induced pluripotent stem cells. 24200905

2013
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 CausalMutation CLINVAR Mutation-positive arrhythmogenic right ventricular dysplasia/cardiomyopathy: the triangle of dysplasia displaced. 23889974

2013
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 CausalMutation CLINVAR Compound and digenic heterozygosity predicts lifetime arrhythmic outcome and sudden cardiac death in desmosomal gene-related arrhythmogenic right ventricular cardiomyopathy. 24070718

2013
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 CausalMutation CLINVAR Risk stratification in arrhythmogenic right ventricular dysplasia/cardiomyopathy-associated desmosomal mutation carriers. 23671136

2013
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 CausalMutation CLINVAR Mechanistic basis of desmosome-targeted diseases. 23911551

2013
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 CausalMutation CLINVAR Exercise testing in asymptomatic gene carriers exposes a latent electrical substrate of arrhythmogenic right ventricular cardiomyopathy. 23810883

2013
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C1836906
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		0.700 CausalMutation CLINVAR Homozygous founder mutation in desmocollin-2 (DSC2) causes arrhythmogenic cardiomyopathy in the Hutterite population. 23863954

2013