ventricular septal defect Gene Set

Dataset HPO Gene-Disease Associations
Category disease or phenotype associations
Type phenotype
Description A heart septal defect characterized by an opening in the interventricular septum, causing a shunt between ventricles. (Human Disease Ontology, DOID_1657)
External Link http://compbio.charite.de/hpoweb/showterm?id=HP:0001629
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Genes

176 genes associated with the ventricular septal defect phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACVR2B activin A receptor, type IIB
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
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
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
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
BCR breakpoint cluster region
CACNA1D calcium channel, voltage-dependent, L type, alpha 1D subunit
CANT1 calcium activated nucleotidase 1
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
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
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
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
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
GLI3 GLI family zinc finger 3
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
HCCS holocytochrome c synthase
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
IGBP1 immunoglobulin (CD79A) binding protein 1
IMPAD1 inositol monophosphatase domain containing 1
JAG1 jagged 1
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
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
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
MPLKIP M-phase specific PLK1 interacting protein
MTFMT mitochondrial methionyl-tRNA formyltransferase
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NEK1 NIMA-related kinase 1
NIPBL Nipped-B homolog (Drosophila)
NKX2-5 NK2 homeobox 5
NODAL nodal growth differentiation factor
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)
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
SALL1 spalt-like transcription factor 1
SALL4 spalt-like transcription factor 4
SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
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
SLC29A3 solute carrier family 29 (equilibrative nucleoside transporter), 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
STAMBP STAM binding protein
STRA6 stimulated by retinoic acid 6
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)
TP63 tumor protein p63
TTC37 tetratricopeptide repeat domain 37
TTC7A tetratricopeptide repeat domain 7A
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)
WDR60 WD repeat domain 60
WT1 Wilms tumor 1
XYLT1 xylosyltransferase I
ZEB2 zinc finger E-box binding homeobox 2
ZIC3 Zic family member 3