dilated cardiomyopathy Gene Set

Dataset HPO Gene-Disease 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://compbio.charite.de/hpoweb/showterm?id=HP:0001644
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Genes

65 genes associated with the dilated cardiomyopathy phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACAD8 acyl-CoA dehydrogenase family, member 8
ACAD9 acyl-CoA dehydrogenase family, member 9
ACTA1 actin, alpha 1, skeletal muscle
ACTN2 actinin, alpha 2
ADCY5 adenylate cyclase 5
ALMS1 Alstrom syndrome protein 1
BOLA3 bolA family member 3
CHKB choline kinase beta
CPT2 carnitine palmitoyltransferase 2
CRYAB crystallin, alpha B
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
DES desmin
DMD dystrophin
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DOLK dolichol kinase
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3
DSG2 desmoglein 2
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERBB3 erb-b2 receptor tyrosine kinase 3
EYA4 EYA transcriptional coactivator and phosphatase 4
FHL1 four and a half LIM domains 1
FKRP fukutin related protein
FKTN fukutin
GATAD1 GATA zinc finger domain containing 1
GLB1 galactosidase, beta 1
HADH hydroxyacyl-CoA dehydrogenase
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HADHB hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), beta subunit
JUP junction plakoglobin
LAMA4 laminin, alpha 4
LAMP2 lysosomal-associated membrane protein 2
LMNA lamin A/C
MGME1 mitochondrial genome maintenance exonuclease 1
MYBPC3 myosin binding protein C, cardiac
MYH6 myosin, heavy chain 6, cardiac muscle, alpha
MYH7 myosin, heavy chain 7, cardiac muscle, beta
NEXN nexilin (F actin binding protein)
PGM1 phosphoglucomutase 1
PLN phospholamban
POLG polymerase (DNA directed), gamma
PSEN1 presenilin 1
PSEN2 presenilin 2
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RBCK1 RanBP-type and C3HC4-type zinc finger containing 1
RBM20 RNA binding motif protein 20
SCN5A sodium channel, voltage gated, type V alpha subunit
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SEPN1 selenoprotein N, 1
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SPEG SPEG complex locus
TAZ tafazzin
TCAP titin-cap
TMPO thymopoietin
TNNC1 troponin C type 1 (slow)
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TPM1 tropomyosin 1 (alpha)
TPM3 tropomyosin 3
TSFM Ts translation elongation factor, mitochondrial
TTN titin
UBR1 ubiquitin protein ligase E3 component n-recognin 1
VCL vinculin