cardiomyopathy Gene Set

Dataset HPO Gene-Disease 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://compbio.charite.de/hpoweb/showterm?id=HP:0001638
Similar Terms
Downloads & Tools

Genes

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

Symbol Name
AARS2 alanyl-tRNA synthetase 2, mitochondrial
ABCC6 ATP-binding cassette, sub-family C (CFTR/MRP), member 6
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
ACADS acyl-CoA dehydrogenase, C-2 to C-3 short chain
ACADVL acyl-CoA dehydrogenase, very long chain
ACTA1 actin, alpha 1, skeletal muscle
ACTC1 actin, alpha, cardiac muscle 1
ACTN2 actinin, alpha 2
ADCY5 adenylate cyclase 5
AGK acylglycerol kinase
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AGPAT2 1-acylglycerol-3-phosphate O-acyltransferase 2
AHCY adenosylhomocysteinase
AIP aryl hydrocarbon receptor interacting protein
ALG1 ALG1, chitobiosyldiphosphodolichol beta-mannosyltransferase
ALMS1 Alstrom syndrome protein 1
ANKRD11 ankyrin repeat domain 11
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
ARSB arylsulfatase B
ATP5E ATP synthase, H+ transporting, mitochondrial F1 complex, epsilon subunit
ATPAF2 ATP synthase mitochondrial F1 complex assembly factor 2
BAG3 BCL2-associated athanogene 3
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCS1L BC1 (ubiquinol-cytochrome c reductase) synthesis-like
BOLA3 bolA family member 3
BRAF B-Raf proto-oncogene, serine/threonine kinase
BRCA2 breast cancer 2, early onset
BRIP1 BRCA1 interacting protein C-terminal helicase 1
BSCL2 Berardinelli-Seip congenital lipodystrophy 2 (seipin)
C10ORF2 chromosome 10 open reading frame 2
CALR3 calreticulin 3
CAV1 caveolin 1, caveolae protein, 22kDa
CAV3 caveolin 3
CDKN1C cyclin-dependent kinase inhibitor 1C (p57, Kip2)
CHKB choline kinase beta
CISD2 CDGSH iron sulfur domain 2
CLIP2 CAP-GLY domain containing linker protein 2
COA5 cytochrome c oxidase assembly factor 5
COG7 component of oligomeric golgi complex 7
COL7A1 collagen, type VII, alpha 1
COQ2 coenzyme Q2 4-hydroxybenzoate polyprenyltransferase
COX1
COX10 COX10 heme A:farnesyltransferase cytochrome c oxidase assembly factor
COX14 COX14 cytochrome c oxidase assembly factor
COX2
COX20 COX20 cytochrome c oxidase assembly factor
COX3
COX6B1 cytochrome c oxidase subunit VIb polypeptide 1 (ubiquitous)
COX7B cytochrome c oxidase subunit VIIb
CPT1A carnitine palmitoyltransferase 1A (liver)
CPT2 carnitine palmitoyltransferase 2
CRYAB crystallin, alpha B
CSRP3 cysteine and glycine-rich protein 3 (cardiac LIM protein)
D2HGDH D-2-hydroxyglutarate dehydrogenase
DCAF8 DDB1 and CUL4 associated factor 8
DES desmin
DLD dihydrolipoamide dehydrogenase
DMD dystrophin
DNAJC19 DnaJ (Hsp40) homolog, subfamily C, member 19
DOLK dolichol kinase
DPM3 dolichyl-phosphate mannosyltransferase polypeptide 3
DSC2 desmocollin 2
DSG2 desmoglein 2
DSP desmoplakin
ELAC2 elaC ribonuclease Z 2
ELN elastin
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERBB3 erb-b2 receptor tyrosine kinase 3
ERCC4 excision repair cross-complementation group 4
EYA4 EYA transcriptional coactivator and phosphatase 4
FAH fumarylacetoacetate hydrolase (fumarylacetoacetase)
FANCA Fanconi anemia, complementation group A
FANCB Fanconi anemia, complementation group B
FANCC Fanconi anemia, complementation group C
FANCD2 Fanconi anemia, complementation group D2
FANCE Fanconi anemia, complementation group E
FANCF Fanconi anemia, complementation group F
FANCG Fanconi anemia, complementation group G
FANCI Fanconi anemia, complementation group I
FANCL Fanconi anemia, complementation group L
FANCM Fanconi anemia, complementation group M
FASTKD2 FAST kinase domains 2
FBXL4 F-box and leucine-rich repeat protein 4
FHL1 four and a half LIM domains 1
FHL2 four and a half LIM domains 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FKTN fukutin
FOS FBJ murine osteosarcoma viral oncogene homolog
FOXRED1 FAD-dependent oxidoreductase domain containing 1
FTO fat mass and obesity associated
FXN frataxin
GABRD gamma-aminobutyric acid (GABA) A receptor, delta
GATA4 GATA binding protein 4
GATAD1 GATA zinc finger domain containing 1
GBE1 glucan (1,4-alpha-), branching enzyme 1
GJA5 gap junction protein, alpha 5, 40kDa
GLA galactosidase, alpha
GLB1 galactosidase, beta 1
GMPPB GDP-mannose pyrophosphorylase B
GNAS GNAS complex locus
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNS glucosamine (N-acetyl)-6-sulfatase
GPC3 glypican 3
GPC4 glypican 4
GSN gelsolin
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GYS1 glycogen synthase 1 (muscle)
H19 H19, imprinted maternally expressed transcript (non-protein coding)
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
HAMP hepcidin antimicrobial peptide
HBB hemoglobin, beta
HCCS holocytochrome c synthase
HFE hemochromatosis
HFE2 hemochromatosis type 2 (juvenile)
HGSNAT heparan-alpha-glucosaminide N-acetyltransferase
HLA-B major histocompatibility complex, class I, B
HPS1 Hermansky-Pudlak syndrome 1
HRAS Harvey rat sarcoma viral oncogene homolog
HSD17B10 hydroxysteroid (17-beta) dehydrogenase 10
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IDUA iduronidase, alpha-L-
IL12B interleukin 12B
JUP junction plakoglobin
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2
KCNJ8 potassium channel, inwardly rectifying subfamily J, member 8
KCNQ1OT1 KCNQ1 opposite strand/antisense transcript 1 (non-protein coding)
KLF1 Kruppel-like factor 1 (erythroid)
KRAS Kirsten rat sarcoma viral oncogene homolog
LAMA4 laminin, alpha 4
LAMP2 lysosomal-associated membrane protein 2
LDB3 LIM domain binding 3
LIAS lipoic acid synthetase
LIMK1 LIM domain kinase 1
LMNA lamin A/C
MAP2K1 mitogen-activated protein kinase kinase 1
MAP2K2 mitogen-activated protein kinase kinase 2
MGME1 mitochondrial genome maintenance exonuclease 1
MLX MLX, MAX dimerization protein
MLYCD malonyl-CoA decarboxylase
MRPL3 mitochondrial ribosomal protein L3
MRPL44 mitochondrial ribosomal protein L44
MRPS22 mitochondrial ribosomal protein S22
MT-ND4 NADH dehydrogenase, subunit 4 (complex I)
MT-ND5 NADH dehydrogenase, subunit 5 (complex I)
MT-ND6 NADH dehydrogenase, subunit 6 (complex I)
MT-TF tRNA
MT-TH tRNA
MT-TK tRNA
MT-TL1 tRNA
MT-TQ tRNA
MT-TS1 tRNA
MT-TS2 tRNA
MT-TW tRNA
MTO1 mitochondrial tRNA translation optimization 1
MUT methylmalonyl CoA mutase
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
MYLK2 myosin light chain kinase 2
MYOT myotilin
MYOZ2 myozenin 2
MYPN myopalladin
NAGA N-acetylgalactosaminidase, alpha-
NAGLU N-acetylglucosaminidase, alpha
ND1
NDUFA1 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
NDUFA11 NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
NDUFAF1 NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
NDUFAF2 NADH dehydrogenase (ubiquinone) complex I, assembly factor 2
NDUFAF3 NADH dehydrogenase (ubiquinone) complex I, assembly factor 3
NDUFAF4 NADH dehydrogenase (ubiquinone) complex I, assembly factor 4
NDUFAF5 NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
NDUFB3 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
NDUFB9 NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 9, 22kDa
NDUFS1 NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
NDUFS2 NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)
NDUFS3 NADH dehydrogenase (ubiquinone) Fe-S protein 3, 30kDa (NADH-coenzyme Q reductase)
NDUFS4 NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
NDUFS6 NADH dehydrogenase (ubiquinone) Fe-S protein 6, 13kDa (NADH-coenzyme Q reductase)
NDUFV1 NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
NDUFV2 NADH dehydrogenase (ubiquinone) flavoprotein 2, 24kDa
NEU1 sialidase 1 (lysosomal sialidase)
NEXN nexilin (F actin binding protein)
NF1 neurofibromin 1
NRAS neuroblastoma RAS viral (v-ras) oncogene homolog
NSD1 nuclear receptor binding SET domain protein 1
NUBPL nucleotide binding protein-like
PALB2 partner and localizer of BRCA2
PCCA propionyl CoA carboxylase, alpha polypeptide
PCCB propionyl CoA carboxylase, beta polypeptide
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PET100 PET100 homolog (S. cerevisiae)
PEX1 peroxisomal biogenesis factor 1
PEX10 peroxisomal biogenesis factor 10
PEX11B peroxisomal biogenesis factor 11 beta
PEX12 peroxisomal biogenesis factor 12
PEX13 peroxisomal biogenesis factor 13
PEX14 peroxisomal biogenesis factor 14
PEX16 peroxisomal biogenesis factor 16
PEX19 peroxisomal biogenesis factor 19
PEX2 peroxisomal biogenesis factor 2
PEX26 peroxisomal biogenesis factor 26
PEX3 peroxisomal biogenesis factor 3
PEX5 peroxisomal biogenesis factor 5
PEX6 peroxisomal biogenesis factor 6
PEX7 peroxisomal biogenesis factor 7
PGM1 phosphoglucomutase 1
PHYH phytanoyl-CoA 2-hydroxylase
PIGT phosphatidylinositol glycan anchor biosynthesis, class T
PKP2 plakophilin 2
PLN phospholamban
PMM2 phosphomannomutase 2
PNPLA2 patatin-like phospholipase domain containing 2
POLG polymerase (DNA directed), gamma
POMT1 protein-O-mannosyltransferase 1
PRDM16 PR domain containing 16
PRKAG2 protein kinase, AMP-activated, gamma 2 non-catalytic subunit
PRPS1 phosphoribosyl pyrophosphate synthetase 1
PSEN1 presenilin 1
PSEN2 presenilin 2
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAB3GAP2 RAB3 GTPase activating protein subunit 2 (non-catalytic)
RAD51C RAD51 paralog C
RAF1 Raf-1 proto-oncogene, serine/threonine kinase
RBCK1 RanBP-type and C3HC4-type zinc finger containing 1
RBM20 RNA binding motif protein 20
RFC2 replication factor C (activator 1) 2, 40kDa
RIT1 Ras-like without CAAX 1
RMND1 required for meiotic nuclear division 1 homolog (S. cerevisiae)
RMRP RNA component of mitochondrial RNA processing endoribonuclease
RYR2 ryanodine receptor 2 (cardiac)
SCN5A sodium channel, voltage gated, type V alpha subunit
SCO2 SCO2 cytochrome c oxidase assembly protein
SDHA succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
SDHAF1 succinate dehydrogenase complex assembly factor 1
SEPN1 selenoprotein N, 1
SGCA sarcoglycan, alpha (50kDa dystrophin-associated glycoprotein)
SGCB sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)
SGCD sarcoglycan, delta (35kDa dystrophin-associated glycoprotein)
SGSH N-sulfoglucosamine sulfohydrolase
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SKI SKI proto-oncogene
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC22A5 solute carrier family 22 (organic cation/carnitine transporter), member 5
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
SLC25A3 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 3
SLC25A4 solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 4
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLX4 SLX4 structure-specific endonuclease subunit
SNAP29 synaptosomal-associated protein, 29kDa
SOS1 son of sevenless homolog 1 (Drosophila)
SPEG SPEG complex locus
SSTR5 somatostatin receptor 5
SYNE2 spectrin repeat containing, nuclear envelope 2
TACO1 translational activator of mitochondrially encoded cytochrome c oxidase I
TAZ tafazzin
TBL2 transducin (beta)-like 2
TCAP titin-cap
TGFB1 transforming growth factor, beta 1
TGFB3 transforming growth factor, beta 3
TMEM126A transmembrane protein 126A
TMEM43 transmembrane protein 43
TMEM70 transmembrane protein 70
TMPO thymopoietin
TNNC1 troponin C type 1 (slow)
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TPI1 triosephosphate isomerase 1
TPM1 tropomyosin 1 (alpha)
TPM3 tropomyosin 3
TRNE
TSFM Ts translation elongation factor, mitochondrial
TTN titin
TTPA tocopherol (alpha) transfer protein
TTR transthyretin
TXNRD2 thioredoxin reductase 2
UBR1 ubiquitin protein ligase E3 component n-recognin 1
VCL vinculin
VPS13A vacuolar protein sorting 13 homolog A (S. cerevisiae)
WFS1 Wolfram syndrome 1 (wolframin)
XK X-linked Kx blood group
YARS2 tyrosyl-tRNA synthetase 2, mitochondrial