cardiomyopathy Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. (Human Disease Ontology, DOID_0050700)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0005330
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Genes

72 gene mutations causing the cardiomyopathy phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5
ABCG5 ATP-binding cassette, sub-family G (WHITE), member 5
ACADM acyl-CoA dehydrogenase, C-4 to C-12 straight chain
ACADVL acyl-CoA dehydrogenase, very long chain
ACAN aggrecan
ARMC4 armadillo repeat containing 4
BIN1 bridging integrator 1
CALR calreticulin
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
CHD2 chromodomain helicase DNA binding protein 2
COX1
COX7A1 cytochrome c oxidase subunit VIIa polypeptide 1 (muscle)
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
CTNNA3 catenin (cadherin-associated protein), alpha 3
DES desmin
DTNA dystrobrevin, alpha
FKBP1A FK506 binding protein 1A, 12kDa
FNIP1 folliculin interacting protein 1
GAA glucosidase, alpha; acid
GJA5 gap junction protein, alpha 5, 40kDa
GLA galactosidase, alpha
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
HBEGF heparin-binding EGF-like growth factor
HEXIM1 hexamethylene bis-acetamide inducible 1
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
IGHMBP2 immunoglobulin mu binding protein 2
IRX4 iroquois homeobox 4
KLF15 Kruppel-like factor 15
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMA4 laminin, alpha 4
LARGE like-glycosyltransferase
LDB3 LIM domain binding 3
LMNA lamin A/C
LTBP4 latent transforming growth factor beta binding protein 4
LY6E lymphocyte antigen 6 complex, locus E
MCOLN1 mucolipin 1
MED30 mediator complex subunit 30
MYBPC3 myosin binding protein C, cardiac
MYH10 myosin, heavy chain 10, non-muscle
MYH11 myosin, heavy chain 11, smooth muscle
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYO6 myosin VI
MYOZ2 myozenin 2
NGF nerve growth factor (beta polypeptide)
NOV nephroblastoma overexpressed
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
PDLIM3 PDZ and LIM domain 3
PDLIM5 PDZ and LIM domain 5
POLD1 polymerase (DNA directed), delta 1, catalytic subunit
PPARA peroxisome proliferator-activated receptor alpha
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RFX3 regulatory factor X, 3 (influences HLA class II expression)
RYR2 ryanodine receptor 2 (cardiac)
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SIRT7 sirtuin 7
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SLC6A6 solute carrier family 6 (neurotransmitter transporter), member 6
SOD2 superoxide dismutase 2, mitochondrial
TBX20 T-box 20
TERC telomerase RNA component
TIMP3 TIMP metallopeptidase inhibitor 3
TREX1 three prime repair exonuclease 1
TRIM54 tripartite motif containing 54
TTN titin
ZMPSTE24 zinc metallopeptidase STE24