abnormal aortic arch morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the convex portion of the aorta between the ascending and descending parts of the aorta; branches from it include the brachiocephalic trunk, the left common carotid artery, and the left subclavian artery; the brachiocephalic trunk further splits to form the right subclavian artery and the right common carotid artery (Mammalian Phenotype Ontology, MP_0004113)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0004113
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Genes

70 gene mutations causing the abnormal aortic arch morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
AP2B1 adaptor-related protein complex 2, beta 1 subunit
ARMC4 armadillo repeat containing 4
ATMIN ATM interactor
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
C5ORF42 chromosome 5 open reading frame 42
CCDC39 coiled-coil domain containing 39
CFC1 cripto, FRL-1, cryptic family 1
CHD7 chromodomain helicase DNA binding protein 7
CHRD chordin
CITED2 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 2
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CXCR4 chemokine (C-X-C motif) receptor 4
DNAAF3 dynein, axonemal, assembly factor 3
DNAH11 dynein, axonemal, heavy chain 11
DNAH5 dynein, axonemal, heavy chain 5
DNM2 dynamin 2
DRC1 dynein regulatory complex subunit 1
ECE1 endothelin converting enzyme 1
EDNRA endothelin receptor type A
EYA1 EYA transcriptional coactivator and phosphatase 1
FBLN1 fibulin 1
FBLN5 fibulin 5
FGF19 fibroblast growth factor 19
FLNA filamin A, alpha
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FUZ fuzzy planar cell polarity protein
GBX2 gastrulation brain homeobox 2
GJA5 gap junction protein, alpha 5, 40kDa
HOXA1 homeobox A1
IFT140 intraflagellar transport 140
IFT27 intraflagellar transport 27
INVS inversin
JUN jun proto-oncogene
KAT6A K(lysine) acetyltransferase 6A
KIF7 kinesin family member 7
LEFTY1 left-right determination factor 1
LMNA lamin A/C
LRP2 low density lipoprotein receptor-related protein 2
LTBP1 latent transforming growth factor beta binding protein 1
MEGF8 multiple EGF-like-domains 8
MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase
MKL2 MKL/myocardin-like 2
MKS1 Meckel syndrome, type 1
NDST1 N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1
NPRL3 nitrogen permease regulator-like 3 (S. cerevisiae)
NRP1 neuropilin 1
PAX3 paired box 3
PAXIP1 PAX interacting (with transcription-activation domain) protein 1
PCSK5 proprotein convertase subtilisin/kexin type 5
PITX2 paired-like homeodomain 2
PLXND1 plexin D1
PRDM1 PR domain containing 1, with ZNF domain
PRRX1 paired related homeobox 1
RERE arginine-glutamic acid dipeptide (RE) repeats
RIPPLY3 ripply transcriptional repressor 3
SEC24B SEC24 family member B
SEMA3C sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C
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)
TGFB2 transforming growth factor, beta 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TMEM67 transmembrane protein 67
VANGL2 VANGL planar cell polarity protein 2
VEGFA vascular endothelial growth factor A
ZIC3 Zic family member 3