intrinsic cardiomyopathy Gene Set

Dataset DISEASES Curated Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description A cardiomyopathy that is characterized as weakness in the muscle of the heart that is not due to an identifiable external cause. (Human Disease Ontology, DOID_0060036)
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Genes

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

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACTC1 actin, alpha, cardiac muscle 1
ACTN2 actinin, alpha 2
ANKRD1 ankyrin repeat domain 1 (cardiac muscle)
BAG3 BCL2-associated athanogene 3
CALR3 calreticulin 3
CRYAB crystallin, alpha B
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
DES desmin
DMD dystrophin
DSC2 desmocollin 2
DSG2 desmoglein 2
DSP desmoplakin
EYA4 EYA transcriptional coactivator and phosphatase 4
JPH2 junctophilin 2
JUP junction plakoglobin
LAMA4 laminin, alpha 4
LDB3 LIM domain binding 3
LMNA lamin A/C
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
MYOZ2 myozenin 2
MYPN myopalladin
NEXN nexilin (F actin binding protein)
PKP2 plakophilin 2
PLN phospholamban
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
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
TAZ tafazzin
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)
TTN titin
VCL vinculin