Bicuspid Aortic Valve Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description The presence of an aortic valve with two instead of the normal three cusps (flaps). (Human Phenotype Ontology, HP_0001647)
External Link https://www.disgenet.org/browser/0/1/0/C0149630
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Genes

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

Symbol Name
ABCC9 ATP-binding cassette, sub-family C (CFTR/MRP), member 9
ACAN aggrecan
ACE2 angiotensin I converting enzyme 2
ACTA2 actin, alpha 2, smooth muscle, aorta
ACTB actin, beta
ADAMTS5 ADAM metallopeptidase with thrombospondin type 1 motif, 5
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
AKT1 v-akt murine thymoma viral oncogene homolog 1
APLN apelin
APOE apolipoprotein E
ARHGAP31 Rho GTPase activating protein 31
ARSD arylsulfatase D
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
AXIN1 axin 1
B3GALT6 UDP-Gal:betaGal beta 1,3-galactosyltransferase polypeptide 6
B3GAT3 beta-1,3-glucuronyltransferase 3
BAZ1B bromodomain adjacent to zinc finger domain, 1B
BCOR BCL6 corepressor
CBL Cbl proto-oncogene, E3 ubiquitin protein ligase
CCN2 cellular communication network factor 2
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CLIP2 CAP-GLY domain containing linker protein 2
CRAT carnitine O-acetyltransferase
CRELD1 cysteine-rich with EGF-like domains 1
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CRP C-reactive protein, pentraxin-related
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
DSG1 desmoglein 1
DSP desmoplakin
EGFR epidermal growth factor receptor
EGR2 early growth response 2
ELN elastin
ENG endoglin
ENPP1 ectonucleotide pyrophosphatase/phosphodiesterase 1
FAM58A family with sequence similarity 58, member A
FBN1 fibrillin 1
FBN2 fibrillin 2
FGF8 fibroblast growth factor 8 (androgen-induced)
FLNA filamin A, alpha
FLNC filamin C, gamma
FN1 fibronectin 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOSB FBJ murine osteosarcoma viral oncogene homolog B
FOXE3 forkhead box E3
FOXF1 forkhead box F1
GAPDH glyceraldehyde-3-phosphate dehydrogenase
GATA4 GATA binding protein 4
GATA5 GATA binding protein 5
GATA6 GATA binding protein 6
GIT1 G protein-coupled receptor kinase interacting ArfGAP 1
GJA5 gap junction protein, alpha 5, 40kDa
GJA8 gap junction protein, alpha 8, 50kDa
GRAP2 GRB2-related adaptor protein 2
GTF2I general transcription factor IIi
GTF2IRD1 GTF2I repeat domain containing 1
HMCN2 hemicentin 2
IFT122 intraflagellar transport 122
ITK IL2-inducible T-cell kinase
JUN jun proto-oncogene
JUNB jun B proto-oncogene
JUND jun D proto-oncogene
KANSL1 KAT8 regulatory NSL complex subunit 1
LIMK1 LIM domain kinase 1
LOX lysyl oxidase
LPA lipoprotein, Lp(a)
LRP5 low density lipoprotein receptor-related protein 5
LTBP3 latent transforming growth factor beta binding protein 3
LTBP4 latent transforming growth factor beta binding protein 4
MAP3K7 mitogen-activated protein kinase kinase kinase 7
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK3 mitogen-activated protein kinase 3
MAT2A methionine adenosyltransferase II, alpha
MATR3 matrin 3
MCTP2 multiple C2 domains, transmembrane 2
MEFV Mediterranean fever
MFAP5 microfibrillar associated protein 5
MLXIPL MLX interacting protein-like
MMP1 matrix metallopeptidase 1
MMP14 matrix metallopeptidase 14 (membrane-inserted)
MMP2 matrix metallopeptidase 2
MMP9 matrix metallopeptidase 9
MT-ATP6 ATP synthase F0 subunit 6
MT-ATP8 ATP synthase F0 subunit 8
MYH11 myosin, heavy chain 11, smooth muscle
MYLK myosin light chain kinase
NAA10 N(alpha)-acetyltransferase 10, NatA catalytic subunit
NF1 neurofibromin 1
NKX2-5 NK2 homeobox 5
NOS3 nitric oxide synthase 3 (endothelial cell)
NOTCH1 notch 1
NR2F2 nuclear receptor subfamily 2, group F, member 2
NXN nucleoredoxin
ODC1 ornithine decarboxylase 1
PACS1 phosphofurin acidic cluster sorting protein 1
PDIA2 protein disulfide isomerase family A, member 2
PITX1 paired-like homeodomain 1
PLOD1 procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
PRKG1 protein kinase, cGMP-dependent, type I
QRSL1 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1
RAC1 ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)
RFC2 replication factor C (activator 1) 2, 40kDa
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
ROBO4 roundabout, axon guidance receptor, homolog 4 (Drosophila)
RPL26 ribosomal protein L26
SIRT1 sirtuin 1
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
SLC22A3 solute carrier family 22 (organic cation transporter), member 3
SLC25A24 solute carrier family 25 (mitochondrial carrier; phosphate carrier), member 24
SLC7A1 solute carrier family 7 (cationic amino acid transporter, y+ system), member 1
SLC9A3R2 solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2
SMAD3 SMAD family member 3
SMAD6 SMAD family member 6
SMAD7 SMAD family member 7
SNIP1 Smad nuclear interacting protein 1
SOD1 superoxide dismutase 1, soluble
SOD2 superoxide dismutase 2, mitochondrial
SOD3 superoxide dismutase 3, extracellular
SPP1 secreted phosphoprotein 1
SRY sex determining region Y
SSH3 slingshot protein phosphatase 3
TAB2 TGF-beta activated kinase 1/MAP3K7 binding protein 2
TBL2 transducin (beta)-like 2
TBX20 T-box 20
TEX26 testis expressed 26
TGFB1 transforming growth factor, beta 1
TGFB2 transforming growth factor, beta 2
TGFB3 transforming growth factor, beta 3
TGFBR1 transforming growth factor, beta receptor 1
TGFBR2 transforming growth factor, beta receptor II (70/80kDa)
TIMP1 TIMP metallopeptidase inhibitor 1
TIMP3 TIMP metallopeptidase inhibitor 3
TLR4 toll-like receptor 4
TNC tenascin C
TRPV6 transient receptor potential cation channel, subfamily V, member 6
TTC37 tetratricopeptide repeat domain 37
UBC ubiquitin C
VEGFA vascular endothelial growth factor A
ZEB2 zinc finger E-box binding homeobox 2