heart disease Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A cardiovascular system disease that involves the heart. (Human Disease Ontology, DOID_114)
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Genes

94 genes involed in the disease heart disease 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
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BRAF B-Raf proto-oncogene, serine/threonine kinase
CACNA1C calcium channel, voltage-dependent, L type, alpha 1C subunit
CACNB2 calcium channel, voltage-dependent, beta 2 subunit
CALR3 calreticulin 3
CAV3 caveolin 3
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
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
ELN elastin
EMD emerin
EYA4 EYA transcriptional coactivator and phosphatase 4
FKRP fukutin related protein
FKTN fukutin
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GATA6 GATA binding protein 6
GATAD1 GATA zinc finger domain containing 1
GJA5 gap junction protein, alpha 5, 40kDa
GPD1L glycerol-3-phosphate dehydrogenase 1-like
HCN4 hyperpolarization activated cyclic nucleotide gated potassium channel 4
JPH2 junctophilin 2
JUP junction plakoglobin
KCNA5 potassium channel, voltage gated shaker related subfamily A, member 5
KCNE2 potassium channel, voltage gated subfamily E regulatory beta subunit 2
KCNE3 potassium channel, voltage gated subfamily E regulatory beta subunit 3
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
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)
NKX2-5 NK2 homeobox 5
NPPA natriuretic peptide A
NUP155 nucleoporin 155kDa
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)
SCN1B sodium channel, voltage gated, type I beta subunit
SCN2B sodium channel, voltage gated, type II beta subunit
SCN3B sodium channel, voltage gated, type III beta subunit
SCN4B sodium channel, voltage gated, type IV beta subunit
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
TLL1 tolloid-like 1
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