PKP2, plakophilin 2, 5318

N. diseases: 82; N. variants: 112
Disease: Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060501184
rs1060501184
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C1836906
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		T 0.700 GeneticVariation CLINVAR Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. 15489853 2004