Arrhythmogenic right ventricular cardiomyopathy Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An intrinsic cardiomyopathy that is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle. (Human Disease Ontology, DOID_0050431)
External Link http://purl.bioontology.org/ontology/SNOMEDCT/253528005
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Genes

4 genes associated with the Arrhythmogenic right ventricular cardiomyopathy phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
DSC2 desmocollin 2
DSP desmoplakin
PKP2 plakophilin 2
TMEM43 transmembrane protein 43