ventricular septal defect Gene Set

Dataset MPO Gene-Phenotype 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://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010402
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Genes

150 gene mutations causing the ventricular septal defect phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACKR3 atypical chemokine receptor 3
ACVR2B activin A receptor, type IIB
ADAM17 ADAM metallopeptidase domain 17
ADAM19 ADAM metallopeptidase domain 19
ADAMTS6 ADAM metallopeptidase with thrombospondin type 1 motif, 6
AIP aryl hydrocarbon receptor interacting protein
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
AP2B1 adaptor-related protein complex 2, beta 1 subunit
ARID1A AT rich interactive domain 1A (SWI-like)
ARMC4 armadillo repeat containing 4
ATE1 arginyltransferase 1
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
B9D1 B9 protein domain 1
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BICC1 BicC family RNA binding protein 1
BMP4 bone morphogenetic protein 4
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
CC2D2A coiled-coil and C2 domain containing 2A
CCDC39 coiled-coil domain containing 39
CEP290 centrosomal protein 290kDa
CFC1 cripto, FRL-1, cryptic family 1
CHD7 chromodomain helicase DNA binding protein 7
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CNTRL centriolin
CREBBP CREB binding protein
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CXCL12 chemokine (C-X-C motif) ligand 12
CXCR4 chemokine (C-X-C motif) receptor 4
CYP51A1 cytochrome P450, family 51, subfamily A, polypeptide 1
CYR61 cysteine-rich, angiogenic inducer, 61
DAAM1 dishevelled associated activator of morphogenesis 1
DAND5 DAN domain family member 5, BMP antagonist
DAW1 dynein assembly factor with WDR repeat domains 1
DCTN5 dynactin 5 (p25)
DHRS3 dehydrogenase/reductase (SDR family) member 3
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNM2 dynamin 2
DOCK1 dedicator of cytokinesis 1
DRC1 dynein regulatory complex subunit 1
DVL2 dishevelled segment polarity protein 2
DYX1C1 dyslexia susceptibility 1 candidate 1
ECE1 endothelin converting enzyme 1
EDN1 endothelin 1
EDNRA endothelin receptor type A
EP300 E1A binding protein p300
FBLN1 fibulin 1
FENDRR FOXF1 adjacent non-coding developmental regulatory RNA
FES FES proto-oncogene, tyrosine kinase
FGF19 fibroblast growth factor 19
FGFR2 fibroblast growth factor receptor 2
FGFRL1 fibroblast growth factor receptor-like 1
FKBP1A FK506 binding protein 1A, 12kDa
FLNA filamin A, alpha
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FOXP1 forkhead box P1
GATA4 GATA binding protein 4
GBE1 glucan (1,4-alpha-), branching enzyme 1
GBX2 gastrulation brain homeobox 2
GDF1 growth differentiation factor 1
GJA5 gap junction protein, alpha 5, 40kDa
GPC3 glypican 3
HECTD1 HECT domain containing E3 ubiquitin protein ligase 1
HEG1 heart development protein with EGF-like domains 1
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HHEX hematopoietically expressed homeobox
HOXA1 homeobox A1
HSPB11 heat shock protein family B (small), member 11
IFT88 intraflagellar transport 88
JARID2 jumonji, AT rich interactive domain 2
JMJD6 jumonji domain containing 6
JUN jun proto-oncogene
KAT6A K(lysine) acetyltransferase 6A
KIF7 kinesin family member 7
KLF3 Kruppel-like factor 3 (basic)
LEFTY1 left-right determination factor 1
LIN28A lin-28 homolog A (C. elegans)
LRP2 low density lipoprotein receptor-related protein 2
LTBP1 latent transforming growth factor beta binding protein 1
LUZP1 leucine zipper protein 1
MEGF8 multiple EGF-like-domains 8
MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase
MKL2 MKL/myocardin-like 2
MMP21 matrix metallopeptidase 21
MYH10 myosin, heavy chain 10, non-muscle
NCOR2 nuclear receptor corepressor 2
NF1 neurofibromin 1
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NIPBL Nipped-B homolog (Drosophila)
NOS3 nitric oxide synthase 3 (endothelial cell)
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
NTF3 neurotrophin 3
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
NXN nucleoredoxin
PAX3 paired box 3
PCSK5 proprotein convertase subtilisin/kexin type 5
PCSK6 proprotein convertase subtilisin/kexin type 6
PDGFRA platelet-derived growth factor receptor, alpha polypeptide
PDS5A PDS5 cohesin associated factor A
PDS5B PDS5 cohesin associated factor B
PEPD peptidase D
PHC1 polyhomeotic homolog 1 (Drosophila)
PITX2 paired-like homeodomain 2
PKD1 polycystic kidney disease 1 (autosomal dominant)
PKD2 polycystic kidney disease 2 (autosomal dominant)
PLAGL1 pleiomorphic adenoma gene-like 1
PLVAP plasmalemma vesicle associated protein
PNN pinin, desmosome associated protein
PRICKLE1 prickle homolog 1 (Drosophila)
PSEN1 presenilin 1
PTK7 protein tyrosine kinase 7 (inactive)
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RERE arginine-glutamic acid dipeptide (RE) repeats
RFX3 regulatory factor X, 3 (influences HLA class II expression)
RIPPLY3 ripply transcriptional repressor 3
RNF4 ring finger protein 4
ROBO1 roundabout, axon guidance receptor, homolog 1 (Drosophila)
ROR2 receptor tyrosine kinase-like orphan receptor 2
RXRA retinoid X receptor, alpha
SALL4 spalt-like transcription factor 4
SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
SIRT1 sirtuin 1
SMAD6 SMAD family member 6
SMAD7 SMAD family member 7
SMARCA4 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
SOS1 son of sevenless homolog 1 (Drosophila)
SOX11 SRY (sex determining region Y)-box 11
SOX4 SRY (sex determining region Y)-box 4
SRSF10 serine/arginine-rich splicing factor 10
SUFU suppressor of fused homolog (Drosophila)
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TBX1 T-box 1
TBX3 T-box 3
TBX5 T-box 5
TCTN2 tectonic family member 2
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB2 transforming growth factor, beta 2
TGFBR3 transforming growth factor, beta receptor III
TLL1 tolloid-like 1
TRIP11 thyroid hormone receptor interactor 11
VANGL2 VANGL planar cell polarity protein 2
VEGFA vascular endothelial growth factor A
WHSC1 Wolf-Hirschhorn syndrome candidate 1
XIRP2 xin actin binding repeat containing 2
YWHAE tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, epsilon
ZBTB14 zinc finger and BTB domain containing 14
ZFPM2 zinc finger protein, FOG family member 2
ZIC3 Zic family member 3