PKP2, plakophilin 2, 5318

N. diseases: 82; N. variants: 112
Disease: Arrhythmogenic Right Ventricular Dysplasia ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397516989
rs397516989
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		TA 0.700 CausalMutation CLINVAR Homozygous Truncating Variant in PKP2 Causes Hypoplastic Left Heart Syndrome. 30562116 2018
dbSNP: rs397516989
rs397516989
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		TA 0.700 CausalMutation CLINVAR Targeted Next-Generation Sequencing of 51 Genes Involved in Primary Electrical Disease. 28341588 2017
dbSNP: rs397516989
rs397516989
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		TA 0.700 CausalMutation CLINVAR Implantable Cardioverter-Defibrillator Therapy in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy: Predictors of Appropriate Therapy, Outcomes, and Complications. 28588093 2017
dbSNP: rs397516989
rs397516989
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		TA 0.700 CausalMutation CLINVAR Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. 27532257 2017
dbSNP: rs397516989
rs397516989
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		TA 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
dbSNP: rs397516989
rs397516989
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C0349788
Disease:
Arrhythmogenic Right Ventricular Dysplasia 		TA 0.700 CausalMutation CLINVAR Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy. 16567567 2006