bicuspid aortic valve Gene Set

Dataset HPO Gene-Disease 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://compbio.charite.de/hpoweb/showterm?id=HP:0001647
Similar Terms
Downloads & Tools

Genes

21 genes associated with the bicuspid aortic valve phenotype by mapping known disease genes to disease phenotypes from the HPO Gene-Disease Associations dataset.

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACTB actin, beta
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GAT3 beta-1,3-glucuronyltransferase 3
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
FBN2 fibrillin 2
FLNA filamin A, alpha
IFT122 intraflagellar transport 122
KANSL1 KAT8 regulatory NSL complex subunit 1
MYH11 myosin, heavy chain 11, smooth muscle
MYH7 myosin, heavy chain 7, cardiac muscle, beta
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NOTCH1 notch 1
RPL26 ribosomal protein L26
SMAD6 SMAD family member 6
SNIP1 Smad nuclear interacting protein 1
TAB2 TGF-beta activated kinase 1/MAP3K7 binding protein 2
TAF2 TAF2 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 150kDa
TGFB2 transforming growth factor, beta 2
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)