abnormal aorta bulb morphology Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description any structural anomaly of the portion of the left ventricular outflow tract delineated by the sinotubular ridge superiorly and the bases of the valve leaflets inferiorly; it comprises the aortic sinuses, the aortic valve leaflets, the commissures, and the interleaflet triangles (Mammalian Phenotype Ontology, MP_0011572)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0011572
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Genes

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

Symbol Name
FBN1 fibrillin 1
GATA5 GATA binding protein 5
LOX lysyl oxidase
TGFB2 transforming growth factor, beta 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)