cardiomyopathy Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. (Human Disease Ontology, DOID_0050700)
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Genes

73 genes involed in the disease cardiomyopathy from the DISEASES Curated Gene-Disease Assocation Evidence Scores dataset.

Symbol Name
AARS2 alanyl-tRNA synthetase 2, mitochondrial
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACADVL acyl-CoA dehydrogenase, very long chain
ACTC1 actin, alpha, cardiac muscle 1
ACTN2 actinin, alpha 2
AGK acylglycerol kinase
ANKRD1 ankyrin repeat domain 1 (cardiac muscle)
BAG3 BCL2-associated athanogene 3
BRAF B-Raf proto-oncogene, serine/threonine kinase
CALR3 calreticulin 3
CAV3 caveolin 3
CRYAB crystallin, alpha B
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTNNA3 catenin (cadherin-associated protein), alpha 3
DES desmin
DMD dystrophin
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DSC2 desmocollin 2
DSG2 desmoglein 2
DSP desmoplakin
EMD emerin
EYA4 EYA transcriptional coactivator and phosphatase 4
FKRP fukutin related protein
FKTN fukutin
GATA4 GATA binding protein 4
GATAD1 GATA zinc finger domain containing 1
GJA5 gap junction protein, alpha 5, 40kDa
JPH2 junctophilin 2
JUP junction plakoglobin
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMA4 laminin, alpha 4
LDB3 LIM domain binding 3
LMNA lamin A/C
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MTO1 mitochondrial tRNA translation optimization 1
MYBPC3 myosin binding protein C, cardiac
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow
MYLK2 myosin light chain kinase 2
MYOZ2 myozenin 2
MYPN myopalladin
NEXN nexilin (F actin binding protein)
NPPA natriuretic peptide A
PKP2 plakophilin 2
PLN phospholamban
PRDM16 PR domain containing 16
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PSEN1 presenilin 1
PSEN2 presenilin 2
RBM20 RNA binding motif protein 20
RYR2 ryanodine receptor 2 (cardiac)
SCN5A sodium channel, voltage gated, type V alpha subunit
SCO2 SCO2 cytochrome c oxidase assembly protein
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
TAZ tafazzin
TBX20 T-box 20
TCAP titin-cap
TGFB3 transforming growth factor, beta 3
TMEM43 transmembrane protein 43
TMPO thymopoietin
TNNC1 troponin C type 1 (slow)
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TPM1 tropomyosin 1 (alpha)
TSFM Ts translation elongation factor, mitochondrial
TTN titin
VCL vinculin
ZFPM2 zinc finger protein, FOG family member 2