Arrhythmogenic Right Ventricular Dysplasia Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C1832931
Similar Terms
Downloads & Tools

Genes

77 genes associated with the disease Arrhythmogenic Right Ventricular Dysplasia in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
ACTN2 actinin, alpha 2
AKAP6 A kinase (PRKA) anchor protein 6
ANKRD1 ankyrin repeat domain 1 (cardiac muscle)
CDH2 cadherin 2, type 1, N-cadherin (neuronal)
CEBPA CCAAT/enhancer binding protein (C/EBP), alpha
CELF1 CUGBP, Elav-like family member 1
CELF2 CUGBP, Elav-like family member 2
CEP85L centrosomal protein 85kDa-like
CKAP4 cytoskeleton-associated protein 4
CTNNA3 catenin (cadherin-associated protein), alpha 3
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DES desmin
DSC2 desmocollin 2
DSG2 desmoglein 2
DSP desmoplakin
EBI3 Epstein-Barr virus induced 3
ELAVL2 ELAV like neuron-specific RNA binding protein 2
ESRRB estrogen-related receptor beta
FABP4 fatty acid binding protein 4, adipocyte
FASN fatty acid synthase
FLNC filamin C, gamma
GAPDH glyceraldehyde-3-phosphate dehydrogenase
GFAP glial fibrillary acidic protein
GJA1 gap junction protein, alpha 1, 43kDa
GJA5 gap junction protein, alpha 5, 40kDa
GJC1 gap junction protein, gamma 1, 45kDa
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GSK3B glycogen synthase kinase 3 beta
HACD1 3-hydroxyacyl-CoA dehydratase 1
HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4
IFT43 intraflagellar transport 43
IL18R1 interleukin 18 receptor 1
ISL1 ISL LIM homeobox 1
ISM2 isthmin 2
JUP junction plakoglobin
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KDM5A lysine (K)-specific demethylase 5A
LDB3 LIM domain binding 3
LMNA lamin A/C
MEF2C myocyte enhancer factor 2C
MET MET proto-oncogene, receptor tyrosine kinase
MMRN1 multimerin 1
MYBPC3 myosin binding protein C, cardiac
MYH7 myosin, heavy chain 7, cardiac muscle, beta
OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
PERP PERP, TP53 apoptosis effector
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PKP2 plakophilin 2
PLEC plectin
PLN phospholamban
PPARA peroxisome proliferator-activated receptor alpha
PPARG peroxisome proliferator-activated receptor gamma
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PRB1 proline-rich protein BstNI subfamily 1
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRKG1 protein kinase, cGMP-dependent, type I
REN renin
RPE65 retinal pigment epithelium-specific protein 65kDa
RPSA ribosomal protein SA
RYR1 ryanodine receptor 1 (skeletal)
RYR2 ryanodine receptor 2 (cardiac)
SCN10A sodium channel, voltage gated, type X alpha subunit
SCN5A sodium channel, voltage gated, type V alpha subunit
SLC8A1 solute carrier family 8 (sodium/calcium exchanger), member 1
STRN striatin, calmodulin binding protein
TGFB1 transforming growth factor, beta 1
TGFB3 transforming growth factor, beta 3
TJP1 tight junction protein 1
TMEM43 transmembrane protein 43
TP63 tumor protein p63
TPM1 tropomyosin 1 (alpha)
TTN titin
UVRAG UV radiation resistance associated