Venous Thrombosis Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Formation of a blood clot (thrombus) inside a vein, causing the obstruction of blood flow. (Human Phenotype Ontology, HP_0004936)
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Genes

122 genes associated with the Venous Thrombosis phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
ACE angiotensin I converting enzyme
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADRB2 adrenoceptor beta 2, surface
ADRB3 adrenoceptor beta 3
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AHCY adenosylhomocysteinase
ALPL alkaline phosphatase, liver/bone/kidney
ANXA5 annexin A5
APOA4 apolipoprotein A-IV
APOE apolipoprotein E
APOH apolipoprotein H (beta-2-glycoprotein I)
AQP2 aquaporin 2 (collecting duct)
ATIC 5-aminoimidazole-4-carboxamide ribonucleotide formyltransferase/IMP cyclohydrolase
C4BPA complement component 4 binding protein, alpha
C4BPB complement component 4 binding protein, beta
CBS cystathionine-beta-synthase
CCL2 chemokine (C-C motif) ligand 2
CD40 CD40 molecule, TNF receptor superfamily member 5
CFH complement factor H
CLEC4M C-type lectin domain family 4, member M
COMT catechol-O-methyltransferase
CPB2 carboxypeptidase B2 (plasma)
CRP C-reactive protein, pentraxin-related
CXCL8 chemokine (C-X-C motif) ligand 8
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9
CYP3A5 cytochrome P450, family 3, subfamily A, polypeptide 5
CYP4F2 cytochrome P450, family 4, subfamily F, polypeptide 2
CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2
ESR1 estrogen receptor 1
ESR2 estrogen receptor 2 (ER beta)
F11 coagulation factor XI
F12 coagulation factor XII (Hageman factor)
F13A1 coagulation factor XIII, A1 polypeptide
F13B coagulation factor XIII, B polypeptide
F2 coagulation factor II (thrombin)
F3 coagulation factor III (thromboplastin, tissue factor)
F5 coagulation factor V (proaccelerin, labile factor)
F7 coagulation factor VII (serum prothrombin conversion accelerator)
F8 coagulation factor VIII, procoagulant component
F9 coagulation factor IX
FGA fibrinogen alpha chain
FGB fibrinogen beta chain
FGG fibrinogen gamma chain
FUT2 fucosyltransferase 2 (secretor status included)
GDF15 growth differentiation factor 15
GGCX gamma-glutamyl carboxylase
GP6 glycoprotein VI (platelet)
HABP2 hyaluronan binding protein 2
HIVEP1 human immunodeficiency virus type I enhancer binding protein 1
HLA-A major histocompatibility complex, class I, A
HLA-B major histocompatibility complex, class I, B
HLA-DPB1 major histocompatibility complex, class II, DP beta 1
HLA-DRB1 major histocompatibility complex, class II, DR beta 1
HRG histidine-rich glycoprotein
ICAM1 intercellular adhesion molecule 1
IL10 interleukin 10
IL1B interleukin 1, beta
IL1R1 interleukin 1 receptor, type I
IL1R2 interleukin 1 receptor, type II
IL1RN interleukin 1 receptor antagonist
IL4 interleukin 4
IL6 interleukin 6
IRX3 iroquois homeobox 3
ITGA2 integrin, alpha 2 (CD49B, alpha 2 subunit of VLA-2 receptor)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JAK2 Janus kinase 2
KLKB1 kallikrein B, plasma (Fletcher factor) 1
KNG1 kininogen 1
LIPG lipase, endothelial
LRP1 low density lipoprotein receptor-related protein 1
LRPAP1 low density lipoprotein receptor-related protein associated protein 1
LTA lymphotoxin alpha
LTC4S leukotriene C4 synthase
MEFV Mediterranean fever
MMP9 matrix metallopeptidase 9
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
NFE2L2 nuclear factor, erythroid 2-like 2
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NFKBIL1 nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1
NOS3 nitric oxide synthase 3 (endothelial cell)
P2RY12 purinergic receptor P2Y, G-protein coupled, 12
PAFAH1B2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa)
PECAM1 platelet/endothelial cell adhesion molecule 1
PLAT plasminogen activator, tissue
PLG plasminogen
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROCR protein C receptor, endothelial
PROS1 protein S (alpha)
PROZ protein Z, vitamin K-dependent plasma glycoprotein
PTGIR prostaglandin I2 (prostacyclin) receptor (IP)
PWAR1 Prader Willi/Angelman region RNA 1
RFC1 replication factor C (activator 1) 1, 145kDa
RGS7 regulator of G-protein signaling 7
SCARA5 scavenger receptor class A, member 5
SELE selectin E
SELL selectin L
SELP selectin P (granule membrane protein 140kDa, antigen CD62)
SELPLG selectin P ligand
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SERPINA10 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
STAB2 stabilin 2
STX2 syntaxin 2
STXBP5 syntaxin binding protein 5 (tomosyn)
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa
TC2N tandem C2 domains, nuclear
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
THBD thrombomodulin
TLR2 toll-like receptor 2
TNF tumor necrosis factor
TNFRSF1A tumor necrosis factor receptor superfamily, member 1A
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TYMS thymidylate synthetase
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
VKORC1 vitamin K epoxide reductase complex, subunit 1
VWF von Willebrand factor
ZP1 zona pellucida glycoprotein 1 (sperm receptor)