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)