abnormal aorticopulmonary septum morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the spiral septum that separates the truncus arteriosus into a ventral pulmonary trunk and the dorsal aorta (Mammalian Phenotype Ontology, MP_0010650)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010650
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Genes

46 gene mutations causing the abnormal aorticopulmonary septum morphology 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