Source: ALL

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs764817683
rs764817683
PKP2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		T 0.700 CausalMutation CLINVAR Evaluation of Structural Progression in Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy. 28097316

2017
dbSNP: rs764817683
rs764817683
PKP2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		T 0.700 CausalMutation CLINVAR Exploring digenic inheritance in arrhythmogenic cardiomyopathy. 29221435

2017
dbSNP: rs764817683
rs764817683
PKP2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		T 0.700 CausalMutation CLINVAR Maturation-Based Model of Arrhythmogenic Right Ventricular Dysplasia Using Patient-Specific Induced Pluripotent Stem Cells. 25971409

2015
dbSNP: rs764817683
rs764817683
PKP2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		T 0.700 CausalMutation CLINVAR Reply: The MOGE(S) classification for a phenotype-genotype nomenclature of cardiomyopathy: more questions than answers? 24768880

2014
dbSNP: rs764817683
rs764817683
PKP2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		T 0.700 CausalMutation CLINVAR Studying arrhythmogenic right ventricular dysplasia with patient-specific iPSCs. 23354045

2013
dbSNP: rs764817683
rs764817683
PKP2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		T 0.700 CausalMutation CLINVAR Clinical phenotype and diagnosis of arrhythmogenic right ventricular cardiomyopathy in pediatric patients carrying desmosomal gene mutations. 21723241

2011
dbSNP: rs764817683
rs764817683
PKP2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		T 0.700 CausalMutation CLINVAR Shared desmosome gene findings in early and late onset arrhythmogenic right ventricular dysplasia/cardiomyopathy. 20857253

2010
dbSNP: rs764817683
rs764817683
PKP2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		T 0.700 CausalMutation CLINVAR Comprehensive desmosome mutation analysis in north americans with arrhythmogenic right ventricular dysplasia/cardiomyopathy. 20031617

2009
dbSNP: rs764817683
rs764817683
PKP2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		T 0.700 CausalMutation CLINVAR Penetrance of mutations in plakophilin-2 among families with arrhythmogenic right ventricular dysplasia/cardiomyopathy. 17010805

2006
dbSNP: rs764817683
rs764817683
PKP2
CUI: C0855329
Disease: Electrocardiogram change
Electrocardiogram change 		T 0.700 CausalMutation CLINVAR Clinical features of arrhythmogenic right ventricular dysplasia/cardiomyopathy associated with mutations in plakophilin-2. 16549640

2006