abnormality of cardiac ventricle Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description An abnormality of a cardiac ventricle. (Human Phenotype Ontology, HP_0001713)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001713
Similar Terms
Downloads & Tools

Genes

234 genes associated with the abnormality of cardiac ventricle phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACTC1 actin, alpha, cardiac muscle 1
ACVR2B activin A receptor, type IIB
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
AGL amylo-alpha-1, 6-glucosidase, 4-alpha-glucanotransferase
AIP aryl hydrocarbon receptor interacting protein
AKT3 v-akt murine thymoma viral oncogene homolog 3
AMER1 APC membrane recruitment protein 1
ANKRD11 ankyrin repeat domain 11
ARHGAP31 Rho GTPase activating protein 31
ARL6 ADP-ribosylation factor-like 6
ARVCF armadillo repeat gene deleted in velocardiofacial syndrome
ARX aristaless related homeobox
ASXL1 additional sex combs like transcriptional regulator 1
ATRX alpha thalassemia/mental retardation syndrome X-linked
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GALTL beta 1,3-galactosyltransferase-like
B3GAT3 beta-1,3-glucuronyltransferase 3
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BBS1 Bardet-Biedl syndrome 1
BBS10 Bardet-Biedl syndrome 10
BBS12 Bardet-Biedl syndrome 12
BBS2 Bardet-Biedl syndrome 2
BBS4 Bardet-Biedl syndrome 4
BBS5 Bardet-Biedl syndrome 5
BBS7 Bardet-Biedl syndrome 7
BBS9 Bardet-Biedl syndrome 9
BCOR BCL6 corepressor
BCR breakpoint cluster region
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BTK Bruton agammaglobulinemia tyrosine kinase
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CANT1 calcium activated nucleotidase 1
CAV3 caveolin 3
CCBE1 collagen and calcium binding EGF domains 1
CCDC22 coiled-coil domain containing 22
CCND2 cyclin D2
CD96 CD96 molecule
CEP290 centrosomal protein 290kDa
CEP57 centrosomal protein 57kDa
CFTR cystic fibrosis transmembrane conductance regulator (ATP-binding cassette sub-family C, member 7)
CHD7 chromodomain helicase DNA binding protein 7
CHRM3 cholinergic receptor, muscarinic 3
CHST14 carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 14
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CLIP2 CAP-GLY domain containing linker protein 2
COL11A2 collagen, type XI, alpha 2
COL2A1 collagen, type II, alpha 1
COMT catechol-O-methyltransferase
COQ9 coenzyme Q9
COX7B cytochrome c oxidase subunit VIIb
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
DDX11 DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11
DHCR7 7-dehydrocholesterol reductase
DSE dermatan sulfate epimerase
DSG1 desmoglein 1
DTNA dystrobrevin, alpha
ECE1 endothelin converting enzyme 1
EFTUD2 elongation factor Tu GTP binding domain containing 2
ELN elastin
EOGT EGF domain-specific O-linked N-acetylglucosamine (GlcNAc) transferase
EPG5 ectopic P-granules autophagy protein 5 homolog (C. elegans)
ERBB3 erb-b2 receptor tyrosine kinase 3
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
EVC Ellis van Creveld protein
EVC2 Ellis van Creveld syndrome 2
FADD Fas (TNFRSF6)-associated via death domain
FBN1 fibrillin 1
FBN2 fibrillin 2
FGFR2 fibroblast growth factor receptor 2
FIG4 FIG4 phosphoinositide 5-phosphatase
FKRP fukutin related protein
FLNA filamin A, alpha
FLNB filamin B, beta
FOXC2 forkhead box C2
FOXF1 forkhead box F1
FTO fat mass and obesity associated
GATA3 GATA binding protein 3
GATA4 GATA binding protein 4
GATA6 GATA binding protein 6
GDF1 growth differentiation factor 1
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GJA1 gap junction protein, alpha 1, 43kDa
GLA galactosidase, alpha
GLI3 GLI family zinc finger 3
GNAS GNAS complex locus
GP1BB glycoprotein Ib (platelet), beta polypeptide
GPC3 glypican 3
GPC4 glypican 4
GPC6 glypican 6
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
GYS1 glycogen synthase 1 (muscle)
HCCS holocytochrome c synthase
HDAC4 histone deacetylase 4
HDAC8 histone deacetylase 8
HIRA histone cell cycle regulator
HOXA13 homeobox A13
HOXD13 homeobox D13
HRAS Harvey rat sarcoma viral oncogene homolog
HYLS1 hydrolethalus syndrome 1
IFT172 intraflagellar transport 172
IFT27 intraflagellar transport 27
IGBP1 immunoglobulin (CD79A) binding protein 1
IMPAD1 inositol monophosphatase domain containing 1
JAG1 jagged 1
JPH2 junctophilin 2
KANSL1 KAT8 regulatory NSL complex subunit 1
KAT6B K(lysine) acetyltransferase 6B
KIAA0196 KIAA0196
KMT2D lysine (K)-specific methyltransferase 2D
KRAS Kirsten rat sarcoma viral oncogene homolog
LBR lamin B receptor
LDB3 LIM domain binding 3
LIMK1 LIM domain kinase 1
LRP2 low density lipoprotein receptor-related protein 2
LRP5 low density lipoprotein receptor-related protein 5
LTBP2 latent transforming growth factor beta binding protein 2
LZTFL1 leucine zipper transcription factor-like 1
MAPK1 mitogen-activated protein kinase 1
MED12 mediator complex subunit 12
MEIS2 Meis homeobox 2
MEOX1 mesenchyme homeobox 1
MGAT2 mannosyl (alpha-1,6-)-glycoprotein beta-1,2-N-acetylglucosaminyltransferase
MGP matrix Gla protein
MKKS McKusick-Kaufman syndrome
MKS1 Meckel syndrome, type 1
MPLKIP M-phase specific PLK1 interacting protein
MTFMT mitochondrial methionyl-tRNA formyltransferase
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYL2 myosin, light chain 2, regulatory, cardiac, slow
MYLK2 myosin light chain kinase 2
MYOZ2 myozenin 2
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NEK1 NIMA-related kinase 1
NEXN nexilin (F actin binding protein)
NIPBL Nipped-B homolog (Drosophila)
NKX2-5 NK2 homeobox 5
NODAL nodal growth differentiation factor
NOTCH1 notch 1
NOTCH2 notch 2
NR2F2 nuclear receptor subfamily 2, group F, member 2
NSD1 nuclear receptor binding SET domain protein 1
NSDHL NAD(P) dependent steroid dehydrogenase-like
PALB2 partner and localizer of BRCA2
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
PHGDH phosphoglycerate dehydrogenase
PIEZO2 piezo-type mechanosensitive ion channel component 2
PIGL phosphatidylinositol glycan anchor biosynthesis, class L
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3R2 phosphoinositide-3-kinase, regulatory subunit 2 (beta)
PKP2 plakophilin 2
PLN phospholamban
POMT2 protein-O-mannosyltransferase 2
PORCN porcupine homolog (Drosophila)
PQBP1 polyglutamine binding protein 1
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RAB23 RAB23, member RAS oncogene family
RAD21 RAD21 homolog (S. pombe)
RARB retinoic acid receptor, beta
RBM8A RNA binding motif protein 8A
RFC2 replication factor C (activator 1) 2, 40kDa
RIT1 Ras-like without CAAX 1
ROR2 receptor tyrosine kinase-like orphan receptor 2
RPL15 ribosomal protein L15
RPL35A ribosomal protein L35a
RPS19 ribosomal protein S19
RYR2 ryanodine receptor 2 (cardiac)
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SCN5A sodium channel, voltage gated, type V alpha subunit
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
SGCG sarcoglycan, gamma (35kDa dystrophin-associated glycoprotein)
SHANK3 SH3 and multiple ankyrin repeat domains 3
SHOC2 soc-2 suppressor of clear homolog (C. elegans)
SLC19A2 solute carrier family 19 (thiamine transporter), member 2
SLC25A20 solute carrier family 25 (carnitine/acylcarnitine translocase), member 20
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), member 3
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SMAD3 SMAD family member 3
SMC1A structural maintenance of chromosomes 1A
SMC3 structural maintenance of chromosomes 3
SMN1 survival of motor neuron 1, telomeric
SNX3 sorting nexin 3
SOS1 son of sevenless homolog 1 (Drosophila)
SOX2 SRY (sex determining region Y)-box 2
SSTR5 somatostatin receptor 5
STAMBP STAM binding protein
STRA6 stimulated by retinoic acid 6
SYNE1 spectrin repeat containing, nuclear envelope 1
TAB2 TGF-beta activated kinase 1/MAP3K7 binding protein 2
TBL2 transducin (beta)-like 2
TBX1 T-box 1
TBX3 T-box 3
TBX5 T-box 5
TCTN3 tectonic family member 3
TFAP2B transcription factor AP-2 beta (activating enhancer binding protein 2 beta)
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TP63 tumor protein p63
TPK1 thiamin pyrophosphokinase 1
TRIM32 tripartite motif containing 32
TTC37 tetratricopeptide repeat domain 37
TTC7A tetratricopeptide repeat domain 7A
TTC8 tetratricopeptide repeat domain 8
UBR1 ubiquitin protein ligase E3 component n-recognin 1
UFD1L ubiquitin fusion degradation 1 like (yeast)
UMPS uridine monophosphate synthetase
VIPAS39 VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog
VPS13B vacuolar protein sorting 13 homolog B (yeast)
VPS33B vacuolar protein sorting 33 homolog B (yeast)
WDPCP WD repeat containing planar cell polarity effector
WDR60 WD repeat domain 60
WNT5A wingless-type MMTV integration site family, member 5A
WT1 Wilms tumor 1
XYLT1 xylosyltransferase I
ZEB2 zinc finger E-box binding homeobox 2
ZIC3 Zic family member 3