Aortic Valve Insufficiency Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description An aortic valve disease that is characterized by leaking of the aortic valve of the heart causes blood to flow in the reverse direction during ventricular diastole, from the aorta into the left ventricle. (Human Disease Ontology, DOID_57)
External Link https://www.disgenet.org/browser/0/1/0/C0003504
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Genes

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

Symbol Name
ACCS 1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)
ACE angiotensin I converting enzyme
ACE2 angiotensin I converting enzyme 2
ACKR3 atypical chemokine receptor 3
ACSS2 acyl-CoA synthetase short-chain family member 2
ACTA2 actin, alpha 2, smooth muscle, aorta
ADORA1 adenosine A1 receptor
ADRA1A adrenoceptor alpha 1A
ADRA2B adrenoceptor alpha 2B
ADRB2 adrenoceptor beta 2, surface
AGO2 argonaute RISC catalytic component 2
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AHR aryl hydrocarbon receptor
AHSA1 AHA1, activator of heat shock 90kDa protein ATPase homolog 1 (yeast)
AIMP2 aminoacyl tRNA synthetase complex-interacting multifunctional protein 2
AKIRIN2 akirin 2
AKR1C3 aldo-keto reductase family 1, member C3
AKT1 v-akt murine thymoma viral oncogene homolog 1
AMH anti-Mullerian hormone
ANK3 ankyrin 3, node of Ranvier (ankyrin G)
APEX1 APEX nuclease (multifunctional DNA repair enzyme) 1
AR androgen receptor
ARF1 ADP-ribosylation factor 1
ARFGEF2 ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)
ARHGEF7 Rho guanine nucleotide exchange factor (GEF) 7
ARRB2 arrestin, beta 2
ASCC1 activating signal cointegrator 1 complex subunit 1
ASCL1 achaete-scute family bHLH transcription factor 1
ATP6AP2 ATPase, H+ transporting, lysosomal accessory protein 2
ATP6V1E1 ATPase, H+ transporting, lysosomal 31kDa, V1 subunit E1
AXIN2 axin 2
BCR breakpoint cluster region
BRCA1 breast cancer 1, early onset
BRD4 bromodomain containing 4
BRS3 bombesin-like receptor 3
BUB1 BUB1 mitotic checkpoint serine/threonine kinase
BUB1B BUB1 mitotic checkpoint serine/threonine kinase B
BUB3 BUB3 mitotic checkpoint protein
C12ORF57 chromosome 12 open reading frame 57
C1ORF64 chromosome 1 open reading frame 64
C4A complement component 4A (Rodgers blood group)
CAMK2N1 calcium/calmodulin-dependent protein kinase II inhibitor 1
CAT catalase
CAV1 caveolin 1, caveolae protein, 22kDa
CBS cystathionine-beta-synthase
CCL11 chemokine (C-C motif) ligand 11
CCL27 chemokine (C-C motif) ligand 27
CCL5 chemokine (C-C motif) ligand 5
CCN2 cellular communication network factor 2
CCND1 cyclin D1
CCR1 chemokine (C-C motif) receptor 1
CCR5 chemokine (C-C motif) receptor 5 (gene/pseudogene)
CD3E CD3e molecule, epsilon (CD3-TCR complex)
CD40 CD40 molecule, TNF receptor superfamily member 5
CDK1 cyclin-dependent kinase 1
CDK2 cyclin-dependent kinase 2
CDK2AP1 cyclin-dependent kinase 2 associated protein 1
CDK5 cyclin-dependent kinase 5
CDK5R1 cyclin-dependent kinase 5, regulatory subunit 1 (p35)
CEP57 centrosomal protein 57kDa
CHST3 carbohydrate (chondroitin 6) sulfotransferase 3
CIP2A cellular inhibitor of PP2A
CLOCK clock circadian regulator
CLU clusterin
CNP 2',3'-cyclic nucleotide 3' phosphodiesterase
COL17A1 collagen, type XVII, alpha 1
COL1A1 collagen, type I, alpha 1
COL1A2 collagen, type I, alpha 2
COL3A1 collagen, type III, alpha 1
COL7A1 collagen, type VII, alpha 1
COPS4 COP9 signalosome subunit 4
CRK v-crk avian sarcoma virus CT10 oncogene homolog
CRKL v-crk avian sarcoma virus CT10 oncogene homolog-like
CTH cystathionine gamma-lyase
CTNNB1 catenin (cadherin-associated protein), beta 1, 88kDa
CXCL10 chemokine (C-X-C motif) ligand 10
CXCL8 chemokine (C-X-C motif) ligand 8
CXCR6 chemokine (C-X-C motif) receptor 6
CYBB cytochrome b-245, beta polypeptide
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
CYP2E1 cytochrome P450, family 2, subfamily E, polypeptide 1
D2HGDH D-2-hydroxyglutarate dehydrogenase
DAO D-amino-acid oxidase
DKK1 dickkopf WNT signaling pathway inhibitor 1
DMBT1 deleted in malignant brain tumors 1
DST dystonin
DUSP22 dual specificity phosphatase 22
EDN1 endothelin 1
EDNRA endothelin receptor type A
EGF epidermal growth factor
EGFR epidermal growth factor receptor
EGR1 early growth response 1
EGR2 early growth response 2
EHMT1 euchromatic histone-lysine N-methyltransferase 1
EIF4E eukaryotic translation initiation factor 4E
ELK1 ELK1, member of ETS oncogene family
ELN elastin
ENAM enamelin
EPAS1 endothelial PAS domain protein 1
EPHA3 EPH receptor A3
EPHB2 EPH receptor B2
ERAP1 endoplasmic reticulum aminopeptidase 1
ERBB2 erb-b2 receptor tyrosine kinase 2
ERG v-ets avian erythroblastosis virus E26 oncogene homolog
ERMARD ER membrane-associated RNA degradation
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
ESRRA estrogen-related receptor alpha
EZH2 enhancer of zeste 2 polycomb repressive complex 2 subunit
FAM58A family with sequence similarity 58, member A
FAS Fas cell surface death receptor
FBN1 fibrillin 1
FGF11 fibroblast growth factor 11
FGF13 fibroblast growth factor 13
FGF2 fibroblast growth factor 2 (basic)
FGF8 fibroblast growth factor 8 (androgen-induced)
FGFR3 fibroblast growth factor receptor 3
FKBP4 FK506 binding protein 4, 59kDa
FKBP5 FK506 binding protein 5
FLNA filamin A, alpha
FN1 fibronectin 1
FOS FBJ murine osteosarcoma viral oncogene homolog
FOSB FBJ murine osteosarcoma viral oncogene homolog B
FOXA1 forkhead box A1
FOXC1 forkhead box C1
FOXE3 forkhead box E3
FSD1 fibronectin type III and SPRY domain containing 1
FSD1L fibronectin type III and SPRY domain containing 1-like
FSTL1 follistatin-like 1
FXYD1 FXYD domain containing ion transport regulator 1
FZD4 frizzled class receptor 4
GATA2 GATA binding protein 2
GATA5 GATA binding protein 5
GJA1 gap junction protein, alpha 1, 43kDa
GNPTAB N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
GNPTG N-acetylglucosamine-1-phosphate transferase, gamma subunit
GPR151 G protein-coupled receptor 151
GPR42 G protein-coupled receptor 42 (gene/pseudogene)
GPRC6A G protein-coupled receptor, class C, group 6, member A
GRAP2 GRB2-related adaptor protein 2
GREB1 growth regulation by estrogen in breast cancer 1
GRK2 G protein-coupled receptor kinase 2
GSTK1 glutathione S-transferase kappa 1
HDAC6 histone deacetylase 6
HEY1 hes-related family bHLH transcription factor with YRPW motif 1
HEY2 hes-related family bHLH transcription factor with YRPW motif 2
HIF1A hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)
HIST1H2BC histone cluster 1, H2bc
HIST1H2BD histone cluster 1, H2bd
HIST1H2BE histone cluster 1, H2be
HIST1H2BF histone cluster 1, H2bf
HIST1H2BG histone cluster 1, H2bg
HIST1H2BI histone cluster 1, H2bi
HLA-B major histocompatibility complex, class I, B
HMGB1 high mobility group box 1
HOXA10 homeobox A10
HPGDS hematopoietic prostaglandin D synthase
HRH4 histamine receptor H4
HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
HSP90AA1 heat shock protein 90kDa alpha (cytosolic), class A member 1
HSPA4 heat shock 70kDa protein 4
HSPB1 heat shock 27kDa protein 1
HSPB2 heat shock 27kDa protein 2
HSPB3 heat shock 27kDa protein 3
ICAM1 intercellular adhesion molecule 1
IDH1 isocitrate dehydrogenase 1 (NADP+), soluble
IDH2 isocitrate dehydrogenase 2 (NADP+), mitochondrial
IDUA iduronidase, alpha-L-
IFNG interferon, gamma
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGF2 insulin-like growth factor 2
IL10 interleukin 10
IL12A interleukin 12A
IL13 interleukin 13
IL17B interleukin 17B
IL18 interleukin 18
IL1A interleukin 1, alpha
IL20 interleukin 20
IL22 interleukin 22
IL23R interleukin 23 receptor
IL25 interleukin 25
IL6 interleukin 6
JPT1 Jupiter microtubule associated homolog 1
JTB jumping translocation breakpoint
JUN jun proto-oncogene
JUNB jun B proto-oncogene
JUND jun D proto-oncogene
KDM4A lysine (K)-specific demethylase 4A
KDR kinase insert domain receptor
KHDRBS1 KH domain containing, RNA binding, signal transduction associated 1
KLK3 kallikrein-related peptidase 3
KLRC4 killer cell lectin-like receptor subfamily C, member 4
LGR4 leucine-rich repeat containing G protein-coupled receptor 4
LGR6 leucine-rich repeat containing G protein-coupled receptor 6
LIN28A lin-28 homolog A (C. elegans)
LOC102723407 putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8
LOC102724560 cystathionine beta-synthase
LOC102724971 putative V-set and immunoglobulin domain-containing-like protein IGHV4OR15-8
LOX lysyl oxidase
LPAR2 lysophosphatidic acid receptor 2
LPAR3 lysophosphatidic acid receptor 3
LRG1 leucine-rich alpha-2-glycoprotein 1
MAP1B microtubule-associated protein 1B
MAP1LC3B microtubule-associated protein 1 light chain 3 beta
MAPK1 mitogen-activated protein kinase 1
MAPK14 mitogen-activated protein kinase 14
MAPK3 mitogen-activated protein kinase 3
MAPK8 mitogen-activated protein kinase 8
MAS1 MAS1 proto-oncogene, G protein-coupled receptor
MAT2A methionine adenosyltransferase II, alpha
MAZ MYC-associated zinc finger protein (purine-binding transcription factor)
MBD2 methyl-CpG binding domain protein 2
MBL2 mannose-binding lectin (protein C) 2, soluble
MCL1 myeloid cell leukemia 1
MDC1 mediator of DNA-damage checkpoint 1
MDM2 MDM2 proto-oncogene, E3 ubiquitin protein ligase
MEFV Mediterranean fever
MET MET proto-oncogene, receptor tyrosine kinase
MFAP5 microfibrillar associated protein 5
MIXL1 Mix paired-like homeobox
MLX MLX, MAX dimerization protein
MME membrane metallo-endopeptidase
MMP1 matrix metallopeptidase 1
MMP13 matrix metallopeptidase 13
MOCOS molybdenum cofactor sulfurase
MRGPRX1 MAS-related GPR, member X1
MRGPRX3 MAS-related GPR, member X3
MRGPRX4 MAS-related GPR, member X4
MUC5AC mucin 5AC, oligomeric mucus/gel-forming
MYC v-myc avian myelocytomatosis viral oncogene homolog
MYDGF myeloid-derived growth factor
MYH11 myosin, heavy chain 11, smooth muscle
MYLK myosin light chain kinase
NCF1 neutrophil cytosolic factor 1
NCF2 neutrophil cytosolic factor 2
NDRG1 N-myc downstream regulated 1
NEDD4L neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NKX2-5 NK2 homeobox 5
NLRP6 NLR family, pyrin domain containing 6
NOTCH1 notch 1
NPEPPS aminopeptidase puromycin sensitive
NPPA natriuretic peptide A
NPPB natriuretic peptide B
NR1I2 nuclear receptor subfamily 1, group I, member 2
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
NR4A1 nuclear receptor subfamily 4, group A, member 1
OXER1 oxoeicosanoid (OXE) receptor 1
PANK2 pantothenate kinase 2
PBK PDZ binding kinase
PCGF2 polycomb group ring finger 2
PDGFRB platelet-derived growth factor receptor, beta polypeptide
PDIK1L PDLIM1 interacting kinase 1 like
PDPN podoplanin
PDSS1 prenyl (decaprenyl) diphosphate synthase, subunit 1
PGR progesterone receptor
PHB2 prohibitin 2
PHF8 PHD finger protein 8
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
PINK1 PTEN induced putative kinase 1
PLA2G15 phospholipase A2, group XV
PLA2G4A phospholipase A2, group IVA (cytosolic, calcium-dependent)
PLAG1 pleiomorphic adenoma gene 1
PLCL1 phospholipase C-like 1
PLK1 polo-like kinase 1
PMEPA1 prostate transmembrane protein, androgen induced 1
POLDIP2 polymerase (DNA-directed), delta interacting protein 2
PPP1R1A protein phosphatase 1, regulatory (inhibitor) subunit 1A
PRKG1 protein kinase, cGMP-dependent, type I
PRL prolactin
PROS1 protein S (alpha)
PRSS2 protease, serine, 2 (trypsin 2)
PSAT1 phosphoserine aminotransferase 1
PTEN phosphatase and tensin homolog
PTGES3 prostaglandin E synthase 3 (cytosolic)
PTK2B protein tyrosine kinase 2 beta
PTPA protein phosphatase 2 phosphatase activator
PXN paxillin
QRSL1 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1
REN renin
RNASEL ribonuclease L (2',5'-oligoisoadenylate synthetase-dependent)
RNF19A ring finger protein 19A, RBR E3 ubiquitin protein ligase
ROS1 ROS proto-oncogene 1 , receptor tyrosine kinase
RRAS related RAS viral (r-ras) oncogene homolog
RUNX2 runt-related transcription factor 2
SARS1 seryl-tRNA synthetase 1
SARS2 seryl-tRNA synthetase 2, mitochondrial
SERPINA3 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 3
SFRP4 secreted frizzled-related protein 4
SGTA small glutamine-rich tetratricopeptide repeat (TPR)-containing, alpha
SH2B1 SH2B adaptor protein 1
SKIV2L superkiller viralicidic activity 2-like (S. cerevisiae)
SLC29A1 solute carrier family 29 (equilibrative nucleoside transporter), member 1
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1
SLC2A10 solute carrier family 2 (facilitated glucose transporter), member 10
SLC35A1 solute carrier family 35 (CMP-sialic acid transporter), member A1
SLC38A3 solute carrier family 38, member 3
SLC5A8 solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8
SLCO6A1 solute carrier organic anion transporter family, member 6A1
SMAD3 SMAD family member 3
SMAD6 SMAD family member 6
SMCP sperm mitochondria-associated cysteine-rich protein
SOD2 superoxide dismutase 2, mitochondrial
SOST sclerostin
SOX9 SRY (sex determining region Y)-box 9
SPOP speckle-type POZ protein
SRA1 steroid receptor RNA activator 1
SREBF1 sterol regulatory element binding transcription factor 1
SSTR4 somatostatin receptor 4
STAT3 signal transducer and activator of transcription 3 (acute-phase response factor)
STAT4 signal transducer and activator of transcription 4
STAT5A signal transducer and activator of transcription 5A
STS steroid sulfatase (microsomal), isozyme S
TAB2 TGF-beta activated kinase 1/MAP3K7 binding protein 2
TCF7 transcription factor 7 (T-cell specific, HMG-box)
TEAD1 TEA domain family member 1 (SV40 transcriptional enhancer factor)
TET2 tet methylcytosine dioxygenase 2
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
TFPI2 tissue factor pathway inhibitor 2
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)
TIMD4 T-cell immunoglobulin and mucin domain containing 4
TIMP1 TIMP metallopeptidase inhibitor 1
TLR4 toll-like receptor 4
TMED10 transmembrane emp24-like trafficking protein 10 (yeast)
TMPRSS2 transmembrane protease, serine 2
TMTC3 transmembrane and tetratricopeptide repeat containing 3
TNF tumor necrosis factor
TNFRSF11A tumor necrosis factor receptor superfamily, member 11a, NFKB activator
TNFRSF11B tumor necrosis factor receptor superfamily, member 11b
TNFRSF12A tumor necrosis factor receptor superfamily, member 12A
TNFSF9 tumor necrosis factor (ligand) superfamily, member 9
TP53 tumor protein p53
TPT1 tumor protein, translationally-controlled 1
TRIP13 thyroid hormone receptor interactor 13
TTC37 tetratricopeptide repeat domain 37
TTN titin
TWIST1 twist family bHLH transcription factor 1
UBAC2 UBA domain containing 2
UXT ubiquitously-expressed, prefoldin-like chaperone
VEGFA vascular endothelial growth factor A
WFS1 Wolfram syndrome 1 (wolframin)
YY1AP1 YY1 associated protein 1
ZBTB7A zinc finger and BTB domain containing 7A
ZC4H2 zinc finger, C4H2 domain containing