abnormal subclavian artery morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the right or left subclavian arteries; the right subclavian artery normally extends from the brachiocephalic artery to the right side of the body and the left subclavian artery extends from the aortic arch to the left side of the body (Mammalian Phenotype Ontology, MP_0003395)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003395
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Genes

30 gene mutations causing the abnormal subclavian artery morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ALDH1A2 aldehyde dehydrogenase 1 family, member A2
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
DNAH11 dynein, axonemal, heavy chain 11
ECE1 endothelin converting enzyme 1
EDN1 endothelin 1
EDNRA endothelin receptor type A
ELN elastin
EYA1 EYA transcriptional coactivator and phosphatase 1
FBLN1 fibulin 1
FGF19 fibroblast growth factor 19
GBX2 gastrulation brain homeobox 2
HOXA1 homeobox A1
KAT6A K(lysine) acetyltransferase 6A
MGRN1 mahogunin ring finger 1, E3 ubiquitin protein ligase
MUS81 MUS81 structure-specific endonuclease subunit
PAX3 paired box 3
PLXND1 plexin D1
PRDM1 PR domain containing 1, with ZNF domain
RERE arginine-glutamic acid dipeptide (RE) repeats
RIPPLY3 ripply transcriptional repressor 3
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