cardiomyopathy Gene Set

Dataset GeneRIF Biological Term Annotations
Category structural or functional annotations
Type biological term
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

298 genes co-occuring with the biological term cardiomyopathy in literature-supported statements describing functions of genes from the GeneRIF Biological Term Annotations dataset.

Symbol Name
AARS alanyl-tRNA synthetase
ABCC5 ATP-binding cassette, sub-family C (CFTR/MRP), member 5
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACE angiotensin I converting enzyme
ACE2 angiotensin I converting enzyme 2
ACTC1 actin, alpha, cardiac muscle 1
ADIPOQ adiponectin, C1Q and collagen domain containing
ADORA1 adenosine A1 receptor
ADRA2C adrenoceptor alpha 2C
ADRB1 adrenoceptor beta 1
ADRB2 adrenoceptor beta 2, surface
AGER advanced glycosylation end product-specific receptor
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AGTR2 angiotensin II receptor, type 2
ALDH2 aldehyde dehydrogenase 2 family (mitochondrial)
ALMS1 Alstrom syndrome protein 1
ANKRD1 ankyrin repeat domain 1 (cardiac muscle)
ANO5 anoctamin 5
APOO apolipoprotein O
AR androgen receptor
BAG3 BCL2-associated athanogene 3
BIN1 bridging integrator 1
BIRC5 baculoviral IAP repeat containing 5
BMP4 bone morphogenetic protein 4
BSG basigin (Ok blood group)
CA1 carbonic anhydrase I
CA2 carbonic anhydrase II
CALM3 calmodulin 3 (phosphorylase kinase, delta)
CAV3 caveolin 3
CBR1 carbonyl reductase 1
CBR3 carbonyl reductase 3
CCL2 chemokine (C-C motif) ligand 2
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CD34 CD34 molecule
CD40LG CD40 ligand
CD46 CD46 molecule, complement regulatory protein
CDH2 cadherin 2, type 1, N-cadherin (neuronal)
CHGA chromogranin A
CHRM2 cholinergic receptor, muscarinic 2
CLU clusterin
COA5 cytochrome c oxidase assembly factor 5
COL3A1 collagen, type III, alpha 1
COX15 cytochrome c oxidase assembly homolog 15 (yeast)
CP ceruloplasmin (ferroxidase)
CRP C-reactive protein, pentraxin-related
CRYAB crystallin, alpha B
CSF3 colony stimulating factor 3 (granulocyte)
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTLA4 cytotoxic T-lymphocyte-associated protein 4
CTNNA3 catenin (cadherin-associated protein), alpha 3
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CTSD cathepsin D
CX3CR1 chemokine (C-X3-C motif) receptor 1
CXADR coxsackie virus and adenovirus receptor
CXCL10 chemokine (C-X-C motif) ligand 10
CXCL9 chemokine (C-X-C motif) ligand 9
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP2J2 cytochrome P450, family 2, subfamily J, polypeptide 2
DAG1 dystroglycan 1 (dystrophin-associated glycoprotein 1)
DCAF8 DDB1 and CUL4 associated factor 8
DES desmin
DMD dystrophin
DMPK dystrophia myotonica-protein kinase
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DSC2 desmocollin 2
DSG2 desmoglein 2
DSP desmoplakin
DUSP4 dual specificity phosphatase 4
DYSF dysferlin
EDN1 endothelin 1
EDN2 endothelin 2
EDNRA endothelin receptor type A
EDNRB endothelin receptor type B
ELAC2 elaC ribonuclease Z 2
EMC7 ER membrane protein complex subunit 7
EMD emerin
ERBB2 erb-b2 receptor tyrosine kinase 2
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
EYA4 EYA transcriptional coactivator and phosphatase 4
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FAS Fas cell surface death receptor
FASLG Fas ligand (TNF superfamily, member 6)
FHL1 four and a half LIM domains 1
FHOD3 formin homology 2 domain containing 3
FKRP fukutin related protein
FKTN fukutin
FN1 fibronectin 1
FRMD4B FERM domain containing 4B
FXN frataxin
GADD45B growth arrest and DNA-damage-inducible, beta
GATA4 GATA binding protein 4
GATAD1 GATA zinc finger domain containing 1
GDF1 growth differentiation factor 1
GDF15 growth differentiation factor 15
GJA1 gap junction protein, alpha 1, 43kDa
GLB1 galactosidase, beta 1
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4
HFE hemochromatosis
HFE2 hemochromatosis type 2 (juvenile)
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DQB1 major histocompatibility complex, class II, DQ beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HLA-DRB4 major histocompatibility complex, class II, DR beta 4
HLA-G major histocompatibility complex, class I, G
HMGB1 high mobility group box 1
HSPB7 heat shock 27kDa protein family, member 7 (cardiovascular)
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGFBP1 insulin-like growth factor binding protein 1
IGFBP3 insulin-like growth factor binding protein 3
IL10 interleukin 10
IL12B interleukin 12B
IL15 interleukin 15
IL17A interleukin 17A
IL17F interleukin 17F
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL4R interleukin 4 receptor
IL6 interleukin 6
IL7 interleukin 7
INHBA inhibin, beta A
ISG15 ISG15 ubiquitin-like modifier
ITGA11 integrin, alpha 11
ITGA7 integrin, alpha 7
ITGB1 integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)
ITGB1BP2 integrin beta 1 binding protein (melusin) 2
ITPR2 inositol 1,4,5-trisphosphate receptor, type 2
JPH2 junctophilin 2
JUP junction plakoglobin
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
KCNJ11 potassium channel, inwardly rectifying subfamily J, member 11
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
KDM4A lysine (K)-specific demethylase 4A
KIT v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
KLF10 Kruppel-like factor 10
KLK1 kallikrein 1
LAMA2 laminin, alpha 2
LAMP2 lysosomal-associated membrane protein 2
LDB3 LIM domain binding 3
LEP leptin
LEPR leptin receptor
LMNA lamin A/C
LRP1 low density lipoprotein receptor-related protein 1
MAP1LC3A microtubule-associated protein 1 light chain 3 alpha
MAP2K6 mitogen-activated protein kinase kinase 6
MAPK14 mitogen-activated protein kinase 14
MAPRE1 microtubule-associated protein, RP/EB family, member 1
MASP2 mannan-binding lectin serine peptidase 2
MEF2C myocyte enhancer factor 2C
MIF macrophage migration inhibitory factor (glycosylation-inhibiting factor)
MIR1-1 microRNA 1-1
MIR146A microRNA 146a
MIR199A1 microRNA 199a-1
MIR208A microRNA 208a
MIR214 microRNA 214
MIR221 microRNA 221
MIR29A microRNA 29a
MIR451A microRNA 451a
MIR499A microRNA 499a
MMP1 matrix metallopeptidase 1
MMP10 matrix metallopeptidase 10
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MMP3 matrix metallopeptidase 3
MMP7 matrix metallopeptidase 7
MMP9 matrix metallopeptidase 9
MRPL3 mitochondrial ribosomal protein L3
MRPS22 mitochondrial ribosomal protein S22
MSTN myostatin
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-TI tRNA
MT-TL1 tRNA
MTO1 mitochondrial tRNA translation optimization 1
MUC16 mucin 16, cell surface associated
MURC muscle-related coiled-coil protein
MYBPC1 myosin binding protein C, slow type
MYBPC2 myosin binding protein C, fast type
MYBPC3 myosin binding protein C, cardiac
MYH3 myosin, heavy chain 3, skeletal muscle, embryonic
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYH7B myosin, heavy chain 7B, cardiac muscle, beta
MYL1 myosin, light chain 1, alkali; skeletal, fast
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYL3 myosin, light chain 3, alkali; ventricular, skeletal, slow
MYOM1 myomesin 1
MYOT myotilin
MYOZ2 myozenin 2
MYPN myopalladin
NAGA N-acetylgalactosaminidase, alpha-
NCAM1 neural cell adhesion molecule 1
ND1
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NEBL nebulette
NEXN nexilin (F actin binding protein)
NFE2L2 nuclear factor, erythroid 2-like 2
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NFKBIL1 nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1
NKX2-5 NK2 homeobox 5
NLRP3 NLR family, pyrin domain containing 3
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NPPA natriuretic peptide A
NPPB natriuretic peptide B
NPPC natriuretic peptide C
NPR2 natriuretic peptide receptor 2
NPY neuropeptide Y
NR1H3 nuclear receptor subfamily 1, group H, member 3
NR3C2 nuclear receptor subfamily 3, group C, member 2
NRIP1 nuclear receptor interacting protein 1
OBSCN obscurin, cytoskeletal calmodulin and titin-interacting RhoGEF
OSM oncostatin M
PDCD1 programmed cell death 1
PDE5A phosphodiesterase 5A, cGMP-specific
PERP PERP, TP53 apoptosis effector
PGF placental growth factor
PGM1 phosphoglucomutase 1
PIM1 Pim-1 proto-oncogene, serine/threonine kinase
PKP2 plakophilin 2
PLN phospholamban
PMM2 phosphomannomutase 2
POLG polymerase (DNA directed), gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPARGC1B peroxisome proliferator-activated receptor gamma, coactivator 1 beta
PRDM16 PR domain containing 16
PRKACA protein kinase, cAMP-dependent, catalytic, alpha
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRL prolactin
PSEN1 presenilin 1
PTGS2 prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
PYGB phosphorylase, glycogen; brain
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RBCK1 RanBP-type and C3HC4-type zinc finger containing 1
RBM20 RNA binding motif protein 20
RNR2 RNA, ribosomal cluster 2
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)
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SGK1 serum/glucocorticoid regulated kinase 1
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC25A5P8 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 5 pseudogene 8
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SOD2 superoxide dismutase 2, mitochondrial
SPEG SPEG complex locus
SQSTM1 sequestosome 1
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STK11 serine/threonine kinase 11
SYNE1 spectrin repeat containing, nuclear envelope 1
TAZ tafazzin
TCAP titin-cap
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB1 transforming growth factor, beta 1
TIMP1 TIMP metallopeptidase inhibitor 1
TIMP2 TIMP metallopeptidase inhibitor 2
TIMP4 TIMP metallopeptidase inhibitor 4
TIRAP toll-interleukin 1 receptor (TIR) domain containing adaptor protein
TLR4 toll-like receptor 4
TMEM43 transmembrane protein 43
TMEM70 transmembrane protein 70
TMPO thymopoietin
TNC tenascin C
TNF tumor necrosis factor
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF12A tumor necrosis factor receptor superfamily, member 12A
TNFSF10 tumor necrosis factor (ligand) superfamily, member 10
TNFSF12 tumor necrosis factor (ligand) superfamily, member 12
TNNC1 troponin C type 1 (slow)
TNNI1 troponin I type 1 (skeletal, slow)
TNNI3 troponin I type 3 (cardiac)
TNNT1 troponin T type 1 (skeletal, slow)
TNNT2 troponin T type 2 (cardiac)
TP53 tumor protein p53
TP63 tumor protein p63
TPM1 tropomyosin 1 (alpha)
TRIM63 tripartite motif containing 63, E3 ubiquitin protein ligase
TRPV2 transient receptor potential cation channel, subfamily V, member 2
TSFM Ts translation elongation factor, mitochondrial
TTN titin
TTR transthyretin
TWIST1 twist family bHLH transcription factor 1
TXNRD2 thioredoxin reductase 2
VCL vinculin
VEGFA vascular endothelial growth factor A
VWF von Willebrand factor
XIRP1 xin actin binding repeat containing 1
YAP1 Yes-associated protein 1
ZBTB17 zinc finger and BTB domain containing 17