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.|A form of CARDIAC MUSCLE disease that is characterized by ventricular dilation, VENTRICULAR DYSFUNCTION, and HEART FAILURE. Risk factors include SMOKING; ALCOHOL DRINKING; HYPERTENSION; INFECTION; PREGNANCY; and mutations in the LMNA gene encoding LAMIN TYPE A, a NUCLEAR LAMINA protein.|decreased function of the heart associated with cardiac enlargement and congestive heart failure (Experimental Factor Ontology, EFO_0000407)
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