dilated cardiomyopathy Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An intrinsic cardiomyopathy that results in damage to the myocardium causing the heart to pump blood inefficiently and characterized by an enlarged heart. (Human Disease Ontology, DOID_12930)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0002795
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Genes

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

Symbol Name
ABCA5 ATP-binding cassette, sub-family A (ABC1), member 5
CAV1 caveolin 1, caveolae protein, 22kDa
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
FKBP1A FK506 binding protein 1A, 12kDa
GJA5 gap junction protein, alpha 5, 40kDa
HBEGF heparin-binding EGF-like growth factor
HEXIM1 hexamethylene bis-acetamide inducible 1
IGHMBP2 immunoglobulin mu binding protein 2
IRX4 iroquois homeobox 4
KRAS Kirsten rat sarcoma viral oncogene homolog
LARGE like-glycosyltransferase
LDB3 LIM domain binding 3
LMNA lamin A/C
LY6E lymphocyte antigen 6 complex, locus E
MCOLN1 mucolipin 1
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
NGF nerve growth factor (beta polypeptide)
OPA3 optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
PDLIM3 PDZ and LIM domain 3
PDLIM5 PDZ and LIM domain 5
PPP1R13L protein phosphatase 1, regulatory subunit 13 like
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
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
TRIM54 tripartite motif containing 54
TTN titin
ZMPSTE24 zinc metallopeptidase STE24