Arrhythmogenic Right Ventricular Dysplasia Gene Set

Dataset HuGE Navigator 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)
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Genes

17 genes associated with the Arrhythmogenic Right Ventricular Dysplasia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
CTNNA3 catenin (cadherin-associated protein), alpha 3
DES desmin
DSC2 desmocollin 2
DSG2 desmoglein 2
DSP desmoplakin
ISL1 ISL LIM homeobox 1
JUP junction plakoglobin
LMNA lamin A/C
MYH7 myosin, heavy chain 7, cardiac muscle, beta
PDP2 pyruvate dehyrogenase phosphatase catalytic subunit 2
PKP2 plakophilin 2
PLN phospholamban
PPARG peroxisome proliferator-activated receptor gamma
RYR2 ryanodine receptor 2 (cardiac)
TGFB3 transforming growth factor, beta 3
TMEM43 transmembrane protein 43