Aortic Valve Stenosis Gene Set

Dataset HuGE Navigator 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)
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33 genes associated with the Aortic Valve Stenosis phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ABCA1 ATP-binding cassette, sub-family A (ABC1), member 1
ACE angiotensin I converting enzyme
AGTR1 angiotensin II receptor, type 1
AGTR2 angiotensin II receptor, type 2
APOA1 apolipoprotein A-I
APOA5 apolipoprotein A-V
APOB apolipoprotein B
APOC4 apolipoprotein C-IV
APOE apolipoprotein E
CASR calcium-sensing receptor
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CETP cholesteryl ester transfer protein, plasma
CMA1 chymase 1, mast cell
CTGF connective tissue growth factor
ELN elastin
FBN1 fibrillin 1
GALNT2 polypeptide N-acetylgalactosaminyltransferase 2
IL10 interleukin 10
LCAT lecithin-cholesterol acyltransferase
LIPC lipase, hepatic
LIPG lipase, endothelial
LPA lipoprotein, Lp(a)
LPL lipoprotein lipase
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
MYO7A myosin VIIA
PLTP phospholipid transfer protein
PTH parathyroid hormone
SCARB1 scavenger receptor class B, member 1
SELPLG selectin P ligand
SLC19A1 solute carrier family 19 (folate transporter), member 1
TGFB1 transforming growth factor, beta 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor