aortic valve stenosis Gene Set

Dataset HPO Gene-Disease 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)
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23 genes associated with the aortic valve stenosis phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ACTB actin, beta
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ANKS6 ankyrin repeat and sterile alpha motif domain containing 6
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
ELN elastin
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
FBLN5 fibulin 5
FBN1 fibrillin 1
GBA glucosidase, beta, acid
GLB1 galactosidase, beta 1
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
IDUA iduronidase, alpha-L-
KIAA0196 KIAA0196
LTBP2 latent transforming growth factor beta binding protein 2
NPHP3 nephronophthisis 3 (adolescent)
NR2F2 nuclear receptor subfamily 2, group F, member 2
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SMAD4 SMAD family member 4
SNIP1 Smad nuclear interacting protein 1
VWF von Willebrand factor