aorticopulmonary septal defect Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description an abnormal communication in the septum between the aorta and pulmonary artery, resulting from incomplete separation of the common tube of the truncus arteriosus and the aorticopulmonary trunk (Mammalian Phenotype Ontology, MP_0010651)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010651
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Genes

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

Symbol Name
ADAM19 ADAM metallopeptidase domain 19
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
ATE1 arginyltransferase 1
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
CC2D2A coiled-coil and C2 domain containing 2A
CHRD chordin
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
DVL2 dishevelled segment polarity protein 2
DVL3 dishevelled segment polarity protein 3
ECE1 endothelin converting enzyme 1
EDNRA endothelin receptor type A
FLNA filamin A, alpha
FOXP1 forkhead box P1
FUZ fuzzy planar cell polarity protein
HOXA3 homeobox A3
IFT140 intraflagellar transport 140
IFT88 intraflagellar transport 88
JUN jun proto-oncogene
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
MKL2 MKL/myocardin-like 2
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NF1 neurofibromin 1
NRP1 neuropilin 1
NTF3 neurotrophin 3
NXN nucleoredoxin
PARVA parvin, alpha
PAX3 paired box 3
PCSK5 proprotein convertase subtilisin/kexin type 5
PCSK6 proprotein convertase subtilisin/kexin type 6
PLXND1 plexin D1
PNN pinin, desmosome associated protein
RDH10 retinol dehydrogenase 10 (all-trans)
RXRA retinoid X receptor, alpha
SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
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
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
VEGFA vascular endothelial growth factor A
WDPCP WD repeat containing planar cell polarity effector