abnormal thoracic aorta morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the part of the aorta that extends from the origin at the heart to the diaphragm, and from which arises numerous branches that supply oxygenated blood to the chest cage and the organs within the chest (Mammalian Phenotype Ontology, MP_0010468)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010468
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Genes

82 gene mutations causing the abnormal thoracic aorta 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
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
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
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
EYA1 EYA transcriptional coactivator and phosphatase 1
FBLN1 fibulin 1
FBLN5 fibulin 5
FBN1 fibrillin 1
FGF19 fibroblast growth factor 19
FLNA filamin A, alpha
FOXC1 forkhead box C1
FOXC2 forkhead box C2
FUZ fuzzy planar cell polarity protein
GATA5 GATA binding protein 5
GBX2 gastrulation brain homeobox 2
GJA5 gap junction protein, alpha 5, 40kDa
HECTD1 HECT domain containing E3 ubiquitin protein ligase 1
HOXA1 homeobox A1
HSPG2 heparan sulfate proteoglycan 2
IFT140 intraflagellar transport 140
IFT27 intraflagellar transport 27
INVS inversin
JUN jun proto-oncogene
KAT6A K(lysine) acetyltransferase 6A
KIF7 kinesin family member 7
KLF15 Kruppel-like factor 15
LEFTY1 left-right determination factor 1
LMNA lamin A/C
LOX lysyl oxidase
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
MUS81 MUS81 structure-specific endonuclease subunit
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
PTGIS prostaglandin I2 (prostacyclin) synthase
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)
TLL1 tolloid-like 1
TMEM67 transmembrane protein 67
VANGL2 VANGL planar cell polarity protein 2
VEGFA vascular endothelial growth factor A
ZIC3 Zic family member 3