abnormal aortic arch and aortic arch branch attachment Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any anomaly of the connection site of the aortic branches to the aortic arch, including the attachment sites for the left common carotid artery, the left subclavian artery, and the brachiocephalic trunk which further splits to form the right subclavian artery and the right common carotid artery (Mammalian Phenotype Ontology, MP_0010464)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010464
Similar Terms
Downloads & Tools


24 gene mutations causing the abnormal aortic arch and aortic arch branch attachment phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
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
DNAH11 dynein, axonemal, heavy chain 11
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
GBX2 gastrulation brain homeobox 2
GJA5 gap junction protein, alpha 5, 40kDa
HOXA1 homeobox A1
KAT6A K(lysine) acetyltransferase 6A
NRP1 neuropilin 1
PAX3 paired box 3
PLXND1 plexin D1
SEC24B SEC24 family member B
TBX1 T-box 1
TFAP2A transcription factor AP-2 alpha (activating enhancer binding protein 2 alpha)
TGFB2 transforming growth factor, beta 2
VANGL2 VANGL planar cell polarity protein 2
VEGFA vascular endothelial growth factor A