ascending aorta hypoplasia Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description underdevelopment or reduced size 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, usually due to reduced cell number (Mammalian Phenotype Ontology, MP_0010469)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010469
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Genes

3 gene mutations causing the ascending aorta hypoplasia phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ATP2A2 ATPase, Ca++ transporting, cardiac muscle, slow twitch 2
HECTD1 HECT domain containing E3 ubiquitin protein ligase 1
TGFB2 transforming growth factor, beta 2