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: rs1555145509
rs1555145509
Entrez Id: 5318
Gene Symbol: PKP2
PKP2
CUI: C1836906
Disease:
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9 		G 0.700 CausalMutation CLINVAR Mutations in the desmosomal protein plakophilin-2 are common in arrhythmogenic right ventricular cardiomyopathy. 15489853 2004