abnormal outflow tract development Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description anomaly in the development of the common arterial trunk that forms the aorta and pulmonary artery and the ventricular outflow regions (Mammalian Phenotype Ontology, MP_0006126)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006126
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Genes

99 gene mutations causing the abnormal outflow tract development phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ACKR3 atypical chemokine receptor 3
ACVR2B activin A receptor, type IIB
ADAM19 ADAM metallopeptidase domain 19
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ATE1 arginyltransferase 1
ATMIN ATM interactor
BMP10 bone morphogenetic protein 10
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
CC2D2A coiled-coil and C2 domain containing 2A
CDH5 cadherin 5, type 2 (vascular endothelium)
CFC1 cripto, FRL-1, cryptic family 1
CFL1 cofilin 1 (non-muscle)
CHD7 chromodomain helicase DNA binding protein 7
CHRD chordin
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
COL4A3BP collagen, type IV, alpha 3 (Goodpasture antigen) binding protein
DVL2 dishevelled segment polarity protein 2
DVL3 dishevelled segment polarity protein 3
ECE1 endothelin converting enzyme 1
EDNRA endothelin receptor type A
EFNA1 ephrin-A1
ENG endoglin
FBLN1 fibulin 1
FGF19 fibroblast growth factor 19
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR2 fibroblast growth factor receptor 2
FLNA filamin A, alpha
FN1 fibronectin 1
FOXH1 forkhead box H1
FOXP1 forkhead box P1
FUZ fuzzy planar cell polarity protein
GATA4 GATA binding protein 4
GJA1 gap junction protein, alpha 1, 43kDa
HAND1 heart and neural crest derivatives expressed 1
HAND2 heart and neural crest derivatives expressed 2
HAS2 hyaluronan synthase 2
HHEX hematopoietically expressed homeobox
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HOXA1 homeobox A1
HOXA3 homeobox A3
HSPG2 heparan sulfate proteoglycan 2
IFT140 intraflagellar transport 140
IFT172 intraflagellar transport 172
IFT88 intraflagellar transport 88
IKBKAP inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase complex-associated protein
ISL1 ISL LIM homeobox 1
JUN jun proto-oncogene
KCNH2 potassium channel, voltage gated eag related subfamily H, member 2
LEFTY1 left-right determination factor 1
LRP1 low density lipoprotein receptor-related protein 1
LRP2 low density lipoprotein receptor-related protein 2
LTBP1 latent transforming growth factor beta binding protein 1
MAP2K5 mitogen-activated protein kinase kinase 5
MEGF8 multiple EGF-like-domains 8
MKL1 megakaryoblastic leukemia (translocation) 1
MKL2 MKL/myocardin-like 2
MYL7 myosin, light chain 7, regulatory
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NF1 neurofibromin 1
NFATC1 nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1
NKX2-5 NK2 homeobox 5
NRP1 neuropilin 1
NTF3 neurotrophin 3
NTRK3 neurotrophic tyrosine kinase, receptor, type 3
NXN nucleoredoxin
PARVA parvin, alpha
PATZ1 POZ (BTB) and AT hook containing zinc finger 1
PAX3 paired box 3
PCSK5 proprotein convertase subtilisin/kexin type 5
PCSK6 proprotein convertase subtilisin/kexin type 6
PHC1 polyhomeotic homolog 1 (Drosophila)
PITX2 paired-like homeodomain 2
PKD1 polycystic kidney disease 1 (autosomal dominant)
PLXND1 plexin D1
PNN pinin, desmosome associated protein
POR P450 (cytochrome) oxidoreductase
RDH10 retinol dehydrogenase 10 (all-trans)
RXRA retinoid X receptor, alpha
SEC24B SEC24 family member B
SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
SIX1 SIX homeobox 1
SMAD6 SMAD family member 6
SNX17 sorting nexin 17
SOX11 SRY (sex determining region Y)-box 11
SOX4 SRY (sex determining region Y)-box 4
SSR1 signal sequence receptor, alpha
TAB1 TGF-beta activated kinase 1/MAP3K7 binding protein 1
TBC1D32 TBC1 domain family, member 32
TBX1 T-box 1
TBX2 T-box 2
TDG thymine-DNA glycosylase
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
VANGL2 VANGL planar cell polarity protein 2
VCAN versican
VEGFA vascular endothelial growth factor A
WDPCP WD repeat containing planar cell polarity effector