Aortic Valve Stenosis Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An aortic valve disease that has_physical_basis_in incomplete opening of the aortic valve. (Human Disease Ontology, DOID_1712)
External Link https://www.disgenet.org/browser/0/1/0/C0003507
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Genes

222 genes associated with the disease Aortic Valve Stenosis in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ACE angiotensin I converting enzyme
ACE2 angiotensin I converting enzyme 2
ACTB actin, beta
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADAMTSL2 ADAMTS-like 2
ADIPOQ adiponectin, C1Q and collagen domain containing
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR2 angiotensin II receptor, type 2
AHSG alpha-2-HS-glycoprotein
AKAP12 A kinase (PRKA) anchor protein 12
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALOX5 arachidonate 5-lipoxygenase
AMER1 APC membrane recruitment protein 1
APLN apelin
APOA1 apolipoprotein A-I
APOB apolipoprotein B
APOE apolipoprotein E
ARHGAP31 Rho GTPase activating protein 31
ARSD arylsulfatase D
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
B4GALT7 xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7
BCL2 B-cell CLL/lymphoma 2
BCOR BCL6 corepressor
BGN biglycan
BMP7 bone morphogenetic protein 7
BSG basigin (Ok blood group)
C1QTNF9 C1q and tumor necrosis factor related protein 9
CAD carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CBS cystathionine-beta-synthase
CCDC22 coiled-coil domain containing 22
CCL2 chemokine (C-C motif) ligand 2
CCN2 cellular communication network factor 2
CD14 CD14 molecule
CD86 CD86 molecule
CFB complement factor B
CHDH choline dehydrogenase
CHGB chromogranin B
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CILP cartilage intermediate layer protein, nucleotide pyrophosphohydrolase
CLIC2 chloride intracellular channel 2
CLTA clathrin, light chain A
CMA1 chymase 1, mast cell
CNBP CCHC-type zinc finger, nucleic acid binding protein
CNP 2',3'-cyclic nucleotide 3' phosphodiesterase
CPB2 carboxypeptidase B2 (plasma)
CPOX coproporphyrinogen oxidase
CRELD1 cysteine-rich with EGF-like domains 1
CRP C-reactive protein, pentraxin-related
CRTAC1 cartilage acidic protein 1
CRTC1 CREB regulated transcription coactivator 1
CRYGC crystallin, gamma C
CTH cystathionine gamma-lyase
CTSA cathepsin A
CTSS cathepsin S
CYP11B2 cytochrome P450, family 11, subfamily B, polypeptide 2
CYP24A1 cytochrome P450, family 24, subfamily A, polypeptide 1
DDR1 discoidin domain receptor tyrosine kinase 1
DKK1 dickkopf WNT signaling pathway inhibitor 1
DMD dystrophin
EBP emopamil binding protein (sterol isomerase)
ECE1 endothelin converting enzyme 1
EDN1 endothelin 1
EDNRA endothelin receptor type A
EHMT1 euchromatic histone-lysine N-methyltransferase 1
ELN elastin
ENG endoglin
ENO3 enolase 3 (beta, muscle)
ENTPD1 ectonucleoside triphosphate diphosphohydrolase 1
ERBB4 erb-b2 receptor tyrosine kinase 4
ESCO2 establishment of sister chromatid cohesion N-acetyltransferase 2
ESR1 estrogen receptor 1
FBN1 fibrillin 1
FCGR3A Fc fragment of IgG, low affinity IIIa, receptor (CD16a)
FCGR3B Fc fragment of IgG, low affinity IIIb, receptor (CD16b)
FGFR1 fibroblast growth factor receptor 1
FH fumarate hydratase
FLI1 Fli-1 proto-oncogene, ETS transcription factor
FLNC filamin C, gamma
FN1 fibronectin 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOSB FBJ murine osteosarcoma viral oncogene homolog B
FOXF1 forkhead box F1
FTO fat mass and obesity associated
GAPDH glyceraldehyde-3-phosphate dehydrogenase
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GATA6 GATA binding protein 6
GDF15 growth differentiation factor 15
GH1 growth hormone 1
GLB1 galactosidase, beta 1
GLS glutaminase
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GUCY2D guanylate cyclase 2D, membrane (retina-specific)
HAAO 3-hydroxyanthranilate 3,4-dioxygenase
HDAC6 histone deacetylase 6
HSPA4 heat shock 70kDa protein 4
HSPD1 heat shock 60kDa protein 1 (chaperonin)
IDUA iduronidase, alpha-L-
IFIH1 interferon induced with helicase C domain 1
IGF1 insulin-like growth factor 1 (somatomedin C)
IL10 interleukin 10
IL17RA interleukin 17 receptor A
IL6 interleukin 6
IL6R interleukin 6 receptor
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JAG1 jagged 1
JARID2 jumonji, AT rich interactive domain 2
JUN jun proto-oncogene
JUNB jun B proto-oncogene
JUND jun D proto-oncogene
KDR kinase insert domain receptor
KLF15 Kruppel-like factor 15
KLF3 Kruppel-like factor 3 (basic)
KRAS Kirsten rat sarcoma viral oncogene homolog
LDLR low density lipoprotein receptor
LEP leptin
LGALS3 lectin, galactoside-binding, soluble, 3
LGALS4 lectin, galactoside-binding, soluble, 4
LMNA lamin A/C
LOC102724560 cystathionine beta-synthase
LOX lysyl oxidase
LPA lipoprotein, Lp(a)
LPAR1 lysophosphatidic acid receptor 1
LTBP2 latent transforming growth factor beta binding protein 2
MAS1 MAS1 proto-oncogene, G protein-coupled receptor
METTL3 methyltransferase like 3
MFN1 mitofusin 1
MLC1 megalencephalic leukoencephalopathy with subcortical cysts 1
MME membrane metallo-endopeptidase
MMP13 matrix metallopeptidase 13
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MMP3 matrix metallopeptidase 3
MMP9 matrix metallopeptidase 9
MMRN1 multimerin 1
MPG N-methylpurine-DNA glycosylase
MPO myeloperoxidase
MSTN myostatin
MUC16 mucin 16, cell surface associated
MYH7 myosin, heavy chain 7, cardiac muscle, beta
MYL7 myosin, light chain 7, regulatory
NEK8 NIMA-related kinase 8
NINJ1 ninjurin 1
NKX2-5 NK2 homeobox 5
NLRP6 NLR family, pyrin domain containing 6
NOTCH1 notch 1
NOTCH2 notch 2
NPHP3 nephronophthisis 3 (adolescent)
NPPB natriuretic peptide B
NPPC natriuretic peptide C
NR1I2 nuclear receptor subfamily 1, group I, member 2
NR2F2 nuclear receptor subfamily 2, group F, member 2
NT5E 5'-nucleotidase, ecto (CD73)
OGA O-GlcNAcase
OGN osteoglycin
OGT O-linked N-acetylglucosamine (GlcNAc) transferase
PALMD palmdelphin
PCSK9 proprotein convertase subtilisin/kexin type 9
PDE5A phosphodiesterase 5A, cGMP-specific
PDPN podoplanin
PIK3CA phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha
PIK3CB phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit beta
PIK3CD phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta
PIK3CG phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit gamma
PITX1 paired-like homeodomain 1
PLTP phospholipid transfer protein
PON1 paraoxonase 1
PPARG peroxisome proliferator-activated receptor gamma
PPARGC1A peroxisome proliferator-activated receptor gamma, coactivator 1 alpha
PPP3CB protein phosphatase 3, catalytic subunit, beta isozyme
PSAP prosaposin
PTDSS1 phosphatidylserine synthase 1
PTPN1 protein tyrosine phosphatase, non-receptor type 1
PTPRC protein tyrosine phosphatase, receptor type, C
REN renin
RETN resistin
RNLS renalase, FAD-dependent amine oxidase
ROBO4 roundabout, axon guidance receptor, homolog 4 (Drosophila)
RUNX2 runt-related transcription factor 2
S100A9 S100 calcium binding protein A9
S100B S100 calcium binding protein B
SCG2 secretogranin II
SDC1 syndecan 1
SDC4 syndecan 4
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SIRT1 sirtuin 1
SLC22A4 solute carrier family 22 (organic cation/zwitterion transporter), member 4
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SMAD4 SMAD family member 4
SMAD6 SMAD family member 6
SNIP1 Smad nuclear interacting protein 1
SOD3 superoxide dismutase 3, extracellular
SPP1 secreted phosphoprotein 1
STING1 stimulator of interferon response cGAMP interactor 1
STS steroid sulfatase (microsomal), isozyme S
SYPL2 synaptophysin-like 2
TAB2 TGF-beta activated kinase 1/MAP3K7 binding protein 2
TBX22 T-box 22
TGFB1 transforming growth factor, beta 1
THBS2 thrombospondin 2
THOP1 thimet oligopeptidase 1
TLR2 toll-like receptor 2
TNC tenascin C
TNF tumor necrosis factor
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFSF11 tumor necrosis factor (ligand) superfamily, member 11
TNNI3 troponin I type 3 (cardiac)
TNNT2 troponin T type 2 (cardiac)
TRPV4 transient receptor potential cation channel, subfamily V, member 4
TTN titin
TTR transthyretin
UTS2 urotensin 2
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VPS51 vacuolar protein sorting 51 homolog (S. cerevisiae)
VWF von Willebrand factor
WASHC5 WASH complex subunit 5
WIF1 WNT inhibitory factor 1
WT1 Wilms tumor 1