arrhythmogenic right ventricular cardiomyopathy Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
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

58 genes co-occuring with the disease arrhythmogenic right ventricular cardiomyopathy in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
PKP2 plakophilin 2 2.81216
DSG2 desmoglein 2 2.27637
JUP junction plakoglobin 2.01978
DSP desmoplakin 2.00424
DSC2 desmocollin 2 2.0001
RYR2 ryanodine receptor 2 (cardiac) 1.87056
ISM2 isthmin 2 1.67548
HACD1 3-hydroxyacyl-CoA dehydratase 1 1.5348
ANGEL1 angel homolog 1 (Drosophila) 1.51281
IRF2BPL interferon regulatory factor 2 binding protein-like 1.41621
DSC3 desmocollin 3 1.39346
RYR1 ryanodine receptor 1 (skeletal) 1.3725
GZMM granzyme M (lymphocyte met-ase 1) 1.09083
ISM1 isthmin 1, angiogenesis inhibitor 1.04924
RBM20 RNA binding motif protein 20 1.04756
IRF6 interferon regulatory factor 6 1.03409
MYOZ2 myozenin 2 0.929587
SSNA1 Sjogren syndrome nuclear autoantigen 1 0.924213
CELF2 CUGBP, Elav-like family member 2 0.832738
ZSCAN1 zinc finger and SCAN domain containing 1 0.823718
TGFB3 transforming growth factor, beta 3 0.806077
MRGPRE MAS-related GPR, member E 0.757786
MZF1 myeloid zinc finger 1 0.733406
RYR3 ryanodine receptor 3 0.687091
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein) 0.657234
TPM1 tropomyosin 1 (alpha) 0.644586
ACE angiotensin I converting enzyme 0.622575
PCYT1A phosphate cytidylyltransferase 1, choline, alpha 0.58433
SCN5A sodium channel, voltage gated, type V alpha subunit 0.582773
POMT2 protein-O-mannosyltransferase 2 0.561392
CCNE2 cyclin E2 0.543155
TMPRSS15 transmembrane protease, serine 15 0.52536
TNNT2 troponin T type 2 (cardiac) 0.514571
DMD dystrophin 0.454847
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit 0.418019
HMOX2 heme oxygenase 2 0.41465
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha) 0.413901
PTPN12 protein tyrosine phosphatase, non-receptor type 12 0.408666
RPSA ribosomal protein SA 0.406798
PTPRD protein tyrosine phosphatase, receptor type, D 0.402318
HTRA2 HtrA serine peptidase 2 0.394863
FKBP1A FK506 binding protein 1A, 12kDa 0.394491
IGLV2-14 immunoglobulin lambda variable 2-14 0.385193
NID1 nidogen 1 0.377402
SRF serum response factor (c-fos serum response element-binding transcription factor) 0.343106
INA internexin neuronal intermediate filament protein, alpha 0.326646
LEF1 lymphoid enhancer-binding factor 1 0.312464
TP63 tumor protein p63 0.30848
PTPN11 protein tyrosine phosphatase, non-receptor type 11 0.276158
TES testin LIM domain protein 0.269043
EPX eosinophil peroxidase 0.260891
PLN phospholamban 0.260538
MUC4 mucin 4, cell surface associated 0.25877
TTN titin 0.192344
DNTT DNA nucleotidylexotransferase 0.171036
APOC3 apolipoprotein C-III 0.168148
FBN1 fibrillin 1 0.163317
MYOG myogenin (myogenic factor 4) 0.161523