Von Willebrand Disease Gene Set

Dataset DisGeNET Gene-Disease Associations
Category disease or phenotype associations
Type disease
External Link https://www.disgenet.org/browser/0/1/0/C0042974
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Genes

100 genes associated with the disease Von Willebrand Disease in GWAS and other genetic association datasets from the DisGeNET Gene-Disease Associations dataset.

Symbol Name
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
ACADVL acyl-CoA dehydrogenase, very long chain
ACKR3 atypical chemokine receptor 3
ACTB actin, beta
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADRA1A adrenoceptor alpha 1A
ADRA2B adrenoceptor alpha 2B
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AK3 adenylate kinase 3
ALKBH1 alkB, alkylation repair homolog 1 (E. coli)
ANGPT2 angiopoietin 2
ANO2 anoctamin 2, calcium activated chloride channel
ANTXR1 anthrax toxin receptor 1
ATP6V0A2 ATPase, H+ transporting, lysosomal V0 subunit a2
ATP7B ATPase, Cu++ transporting, beta polypeptide
AVP arginine vasopressin
BAAT bile acid CoA:amino acid N-acyltransferase
BMPER BMP binding endothelial regulator
BRS3 bombesin-like receptor 3
CANX calnexin
CD40 CD40 molecule, TNF receptor superfamily member 5
CFH complement factor H
CHRD chordin
CLCA1 chloride channel accessory 1
CLEC4M C-type lectin domain family 4, member M
COCH cochlin
COX8A cytochrome c oxidase subunit VIIIA (ubiquitous)
CRISPLD2 cysteine-rich secretory protein LCCL domain containing 2
CSHL1 chorionic somatomammotropin hormone-like 1
CXCR6 chemokine (C-X-C motif) receptor 6
EDNRA endothelin receptor type A
EPHA3 EPH receptor A3
F11 coagulation factor XI
F2 coagulation factor II (thrombin)
F3 coagulation factor III (thromboplastin, tissue factor)
F8 coagulation factor VIII, procoagulant component
F9 coagulation factor IX
FAM20C family with sequence similarity 20, member C
FZD4 frizzled class receptor 4
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GP6 glycoprotein VI (platelet)
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
HADHA hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit
HPSE heparanase
IFNA2 interferon, alpha 2
IL11 interleukin 11
ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41)
ITIH1 inter-alpha-trypsin inhibitor heavy chain 1
ITIH5 inter-alpha-trypsin inhibitor heavy chain family, member 5
LGR6 leucine-rich repeat containing G protein-coupled receptor 6
LPAR2 lysophosphatidic acid receptor 2
LPAR3 lysophosphatidic acid receptor 3
LRPAP1 low density lipoprotein receptor-related protein associated protein 1
MPL MPL proto-oncogene, thrombopoietin receptor
MRGPRX1 MAS-related GPR, member X1
MRGPRX3 MAS-related GPR, member X3
MRGPRX4 MAS-related GPR, member X4
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MUC5B mucin 5B, oligomeric mucus/gel-forming
NHS Nance-Horan syndrome (congenital cataracts and dental anomalies)
NOV nephroblastoma overexpressed
OTOA otoancorin
OXER1 oxoeicosanoid (OXE) receptor 1
P2RY12 purinergic receptor P2Y, G-protein coupled, 12
PDIA3 protein disulfide isomerase family A, member 3
PDLIM5 PDZ and LIM domain 5
PFDN5 prefoldin subunit 5
PLG plasminogen
POMC proopiomelanocortin
POU2F3 POU class 2 homeobox 3
PRB2 proline-rich protein BstNI subfamily 2
PTGIR prostaglandin I2 (prostacyclin) receptor (IP)
QRSL1 glutaminyl-tRNA synthase (glutamine-hydrolyzing)-like 1
RABGEF1 RAB guanine nucleotide exchange factor (GEF) 1
RAP1A RAP1A, member of RAS oncogene family
RBPJ recombination signal binding protein for immunoglobulin kappa J region
SACM1L SAC1 suppressor of actin mutations 1-like (yeast)
SCO2 SCO2 cytochrome c oxidase assembly protein
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SET SET nuclear proto-oncogene
SMPX small muscle protein, X-linked
SPRR2A small proline-rich protein 2A
SSTR4 somatostatin receptor 4
STAB2 stabilin 2
STX2 syntaxin 2
STXBP5 syntaxin binding protein 5 (tomosyn)
TBX1 T-box 1
TERF2IP telomeric repeat binding factor 2, interacting protein
TGM5 transglutaminase 5
THBS1 thrombospondin 1
THPO thrombopoietin
TLR5 toll-like receptor 5
VEGFA vascular endothelial growth factor A
VWA8 von Willebrand factor A domain containing 8
VWF von Willebrand factor