Cardiomyopathy Gene Set

Dataset DISEASES Curated Gene-Disease Association Evidence Scores 2025
Category disease or phenotype associations
Type disease
Description A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).|A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive. (Experimental Factor Ontology, EFO_0000318)
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Genes

120 genes involed in the disease Cardiomyopathy from the DISEASES Curated Gene-Disease Association Evidence Scores 2025 dataset.

Symbol Name Standardized Value
HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4 5.0
ANKRD1 ankyrin repeat domain 1 (cardiac muscle) 5.0
CAP2 CAP, adenylate cyclase-associated protein, 2 (yeast) 4.0
VEZF1 vascular endothelial zinc finger 1 4.0
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit 4.0
TTN titin 4.0
DSG2 desmoglein 2 4.0
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2 4.0
KCNJ5 potassium channel, inwardly rectifying subfamily J, member 5 4.0
MYBPC3 myosin binding protein C, cardiac 4.0
TNNT2 troponin T type 2 (cardiac) 4.0
PKP2 plakophilin 2 4.0
TNNI3 troponin I type 3 (cardiac) 4.0
SCO2 SCO2 cytochrome c oxidase assembly protein 4.0
FKTN fukutin 4.0
RAF1 Raf-1 proto-oncogene, serine/threonine kinase 4.0
PRDM16 PR domain containing 16 4.0
TSFM Ts translation elongation factor, mitochondrial 4.0
GTPBP3 GTP binding protein 3 (mitochondrial) 4.0
KLHL24 kelch-like family member 24 4.0
DTNA dystrobrevin, alpha 4.0
KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit 2 4.0
KCNE1 potassium channel, voltage gated subfamily E regulatory beta subunit 1 4.0
TPM1 tropomyosin 1 (alpha) 4.0
KIF20A kinesin family member 20A 4.0
RPL3L ribosomal protein L3-like 4.0
SCN5A sodium channel, voltage gated, type V alpha subunit 4.0
TGFB3 transforming growth factor, beta 3 4.0
FLII flightless I homolog (Drosophila) 4.0
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6 4.0
NEXN nexilin (F actin binding protein) 4.0
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein) 4.0
MYPN myopalladin 4.0
TMEM43 transmembrane protein 43 4.0
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4 4.0
MYZAP myocardial zonula adherens protein 4.0
NDUFB11 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 11, 17.3kDa 4.0
SCN4B sodium channel, voltage gated, type IV beta subunit 4.0
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1 4.0
PLN phospholamban 4.0
TNNC1 troponin C type 1 (slow) 4.0
LDB3 LIM domain binding 3 4.0
MYH6 myosin, heavy chain 6, cardiac muscle, alpha 4.0
MYH7 myosin, heavy chain 7, cardiac muscle, beta 4.0
LAMA4 laminin, alpha 4 4.0
GATA4 GATA binding protein 4 4.0
MYO6 myosin VI 4.0
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9 4.0
CRYAB crystallin, alpha B 4.0
GJA5 gap junction protein, alpha 5, 40kDa 4.0
AKAP9 A kinase (PRKA) anchor protein 9 4.0
TBX20 T-box 20 4.0
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit 4.0
RRAGD Ras-related GTP binding D 4.0
RRAGC Ras-related GTP binding C 4.0
AGK acylglycerol kinase 4.0
MIB1 mindbomb E3 ubiquitin protein ligase 1 4.0
FKRP fukutin related protein 4.0
TBX5 T-box 5 4.0
GET3 guided entry of tail-anchored proteins factor 3, ATPase 4.0
VCL vinculin 4.0
OPA1 optic atrophy 1 (autosomal dominant) 4.0
ZFPM2 zinc finger protein, FOG family member 2 4.0
TNNI3K TNNI3 interacting kinase 4.0
KRAS Kirsten rat sarcoma viral oncogene homolog 4.0
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19 4.0
ACTC1 actin, alpha, cardiac muscle 1 4.0
SNTA1 syntrophin, alpha 1 4.0
CTNNA3 catenin (cadherin-associated protein), alpha 3 4.0
DMD dystrophin 4.0
ALPK3 alpha-kinase 3 4.0
LMNA lamin A/C 4.0
NPPA natriuretic peptide A 4.0
ACADVL acyl-CoA dehydrogenase, very long chain 4.0
LMOD2 leiomodin 2 (cardiac) 4.0
DSC2 desmocollin 2 4.0
DSP desmoplakin 4.0
CALM2 calmodulin 2 (phosphorylase kinase, delta) 4.0
CALM3 calmodulin 3 (phosphorylase kinase, delta) 4.0
CALM1 calmodulin 1 (phosphorylase kinase, delta) 4.0
FHOD3 formin homology 2 domain containing 3 4.0
PPP1R13L protein phosphatase 1, regulatory subunit 13 like 4.0
ACTN2 actinin, alpha 2 4.0
MYLK2 myosin light chain kinase 2 4.0
TCAP titin-cap 4.0
EMD emerin 4.0
GATAD1 GATA zinc finger domain containing 1 4.0
RBM20 RNA binding motif protein 20 4.0
CALR3 calreticulin 3 4.0
CAV3 caveolin 3 4.0
DES desmin 4.0
MTO1 mitochondrial tRNA translation optimization 1 4.0
PSEN2 presenilin 2 4.0
PSEN1 presenilin 1 4.0
CORIN corin, serine peptidase 4.0
EYA4 EYA transcriptional coactivator and phosphatase 4 4.0
GRM7 glutamate receptor, metabotropic 7 4.0
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein) 4.0
AARS2 alanyl-tRNA synthetase 2, mitochondrial 4.0
ANK2 ankyrin 2, neuronal 4.0
RYR2 ryanodine receptor 2 (cardiac) 4.0
MYL2 myosin, light chain 2, regulatory, cardiac, slow 4.0
MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow 4.0
MAP2K2 mitogen-activated protein kinase kinase 2 4.0
MYOZ2 myozenin 2 4.0
FLNC filamin C, gamma 4.0
BRAF B-Raf proto-oncogene, serine/threonine kinase 4.0
FNIP1 folliculin interacting protein 1 4.0
BAG3 BCL2-associated athanogene 3 4.0
BAG5 BCL2-associated athanogene 5 4.0
TMPO thymopoietin 4.0
PPCS phosphopantothenoylcysteine synthetase 4.0
CDH2 cadherin 2, type 1, N-cadherin (neuronal) 4.0
JPH2 junctophilin 2 4.0
SHMT2 serine hydroxymethyltransferase 2 (mitochondrial) 4.0
JUP junction plakoglobin 4.0
RNF220 ring finger protein 220 4.0
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2 4.0
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp) 4.0
MAP2K1 mitogen-activated protein kinase kinase 1 4.0