aortic valve stenosis Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description An aortic valve disease that has_physical_basis_in incomplete opening of the aortic valve. (Human Disease Ontology, DOID_1712)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0006117
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Genes

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

Symbol Name
ACKR3 atypical chemokine receptor 3
ADAM19 ADAM metallopeptidase domain 19
HBEGF heparin-binding EGF-like growth factor
HOXA3 homeobox A3
INVS inversin
KLF3 Kruppel-like factor 3 (basic)
MUS81 MUS81 structure-specific endonuclease subunit
NKX2-5 NK2 homeobox 5
PHC1 polyhomeotic homolog 1 (Drosophila)
PLCE1 phospholipase C, epsilon 1
SOS1 son of sevenless homolog 1 (Drosophila)
WRN Werner syndrome, RecQ helicase-like