bicuspid aortic valve Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description The presence of an aortic valve with two instead of the normal three cusps (flaps). (Human Phenotype Ontology, HP_0001647)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0010484
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Genes

6 gene mutations causing the bicuspid aortic valve phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
GATA5 GATA binding protein 5
HOXA1 homeobox A1
KLF3 Kruppel-like factor 3 (basic)
NKX2-5 NK2 homeobox 5
NOS3 nitric oxide synthase 3 (endothelial cell)
PLCE1 phospholipase C, epsilon 1