abnormal ascending aorta morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the portion of the aorta that arises from the base of the left ventricle and extends upward to the aortic arch and from which the coronary arteries arise (Mammalian Phenotype Ontology, MP_0009867)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0009867
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Genes

17 gene mutations causing the abnormal ascending aorta morphology phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
ATP7A ATPase, Cu++ transporting, alpha polypeptide
ECE1 endothelin converting enzyme 1
EDNRA endothelin receptor type A
EFEMP2 EGF containing fibulin-like extracellular matrix protein 2
FBLN5 fibulin 5
FBN1 fibrillin 1
GATA5 GATA binding protein 5
HECTD1 HECT domain containing E3 ubiquitin protein ligase 1
HSPG2 heparan sulfate proteoglycan 2
LOX lysyl oxidase
LTBP1 latent transforming growth factor beta binding protein 1
MUS81 MUS81 structure-specific endonuclease subunit
PLXND1 plexin D1
TGFB2 transforming growth factor, beta 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)