Thrombophilia Gene Set

Dataset HuGE Navigator Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description OMIM mapping confirmed by DO. [LS]. (Human Disease Ontology, DOID_2452)
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Genes

338 genes associated with the Thrombophilia phenotype by text-mining GWAS publications from the HuGE Navigator Gene-Phenotype Associations dataset.

Symbol Name
3.8-1.2 HLA complex group 26 (non-protein coding) pseudogene
ABCB1 ATP-binding cassette, sub-family B (MDR/TAP), member 1
ABCC8 ATP-binding cassette, sub-family C (CFTR/MRP), member 8
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase)
ACE angiotensin I converting enzyme
ACVR1 activin A receptor, type I
ACVR1B activin A receptor, type IB
ACVR1C activin A receptor, type IC
ACVR2A activin A receptor, type IIA
ACVR2B activin A receptor, type IIB
ACVRL1 activin A receptor type II-like 1
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13
ADAMTS9 ADAM metallopeptidase with thrombospondin type 1 motif, 9
ADIPOQ adiponectin, C1Q and collagen domain containing
ADRB2 adrenoceptor beta 2, surface
ADRBK2 adrenergic, beta, receptor kinase 2
AFF2 AF4/FMR2 family, member 2
AGT angiotensinogen (serpin peptidase inhibitor, clade A, member 8)
AGTR1 angiotensin II receptor, type 1
AIRE autoimmune regulator
AKR1C2 aldo-keto reductase family 1, member C2
AKR1C3 aldo-keto reductase family 1, member C3
AKT1 v-akt murine thymoma viral oncogene homolog 1
ALDH1B1 aldehyde dehydrogenase 1 family, member B1
AMH anti-Mullerian hormone
AMHR2 anti-Mullerian hormone receptor, type II
ANKK1 ankyrin repeat and kinase domain containing 1
ANOS1 anosmin 1
ANXA5 annexin A5
APOA4 apolipoprotein A-IV
APOB apolipoprotein B
APOE apolipoprotein E
APOH apolipoprotein H (beta-2-glycoprotein I)
AR androgen receptor
ARRB2 arrestin, beta 2
B3GNT5 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 5
BCAT1 branched chain amino-acid transaminase 1, cytosolic
BDNF brain-derived neurotrophic factor
BMP10 bone morphogenetic protein 10
BMP15 bone morphogenetic protein 15
BMP2 bone morphogenetic protein 2
BMP3 bone morphogenetic protein 3
BMP4 bone morphogenetic protein 4
BMP5 bone morphogenetic protein 5
BMP6 bone morphogenetic protein 6
BMP7 bone morphogenetic protein 7
BMP8B bone morphogenetic protein 8b
BMPR1A bone morphogenetic protein receptor, type IA
BMPR1B bone morphogenetic protein receptor, type IB
BMPR2 bone morphogenetic protein receptor, type II (serine/threonine kinase)
BUB3 BUB3 mitotic checkpoint protein
CALR calreticulin
CASC1 cancer susceptibility candidate 1
CBR3 carbonyl reductase 3
CBS cystathionine-beta-synthase
CCK cholecystokinin
CCL5 chemokine (C-C motif) ligand 5
CCR3 chemokine (C-C motif) receptor 3
CD40LG CD40 ligand
CDK12 cyclin-dependent kinase 12
CEP70 centrosomal protein 70kDa
CETP cholesteryl ester transfer protein, plasma
CGA glycoprotein hormones, alpha polypeptide
CGB5 chorionic gonadotropin, beta polypeptide 5
CHFR checkpoint with forkhead and ring finger domains, E3 ubiquitin protein ligase
CHRNA1 cholinergic receptor, nicotinic, alpha 1 (muscle)
CHRNA10 cholinergic receptor, nicotinic, alpha 10 (neuronal)
CHRNA2 cholinergic receptor, nicotinic, alpha 2 (neuronal)
CHRNA3 cholinergic receptor, nicotinic, alpha 3 (neuronal)
CHRNA4 cholinergic receptor, nicotinic, alpha 4 (neuronal)
CHRNA5 cholinergic receptor, nicotinic, alpha 5 (neuronal)
CHRNA6 cholinergic receptor, nicotinic, alpha 6 (neuronal)
CHRNA7 cholinergic receptor, nicotinic, alpha 7 (neuronal)
CHRNA9 cholinergic receptor, nicotinic, alpha 9 (neuronal)
CHRNB1 cholinergic receptor, nicotinic, beta 1 (muscle)
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal)
CHRNB3 cholinergic receptor, nicotinic, beta 3 (neuronal)
CHRNB4 cholinergic receptor, nicotinic, beta 4 (neuronal)
CHRND cholinergic receptor, nicotinic, delta (muscle)
CHRNE cholinergic receptor, nicotinic, epsilon (muscle)
CHRNG cholinergic receptor, nicotinic, gamma (muscle)
CITED4 Cbp/p300-interacting transactivator, with Glu/Asp-rich carboxy-terminal domain, 4
CNR1 cannabinoid receptor 1 (brain)
COL2A1 collagen, type II, alpha 1
COMT catechol-O-methyltransferase
CPB2 carboxypeptidase B2 (plasma)
CRHR1 corticotropin releasing hormone receptor 1
CRHR2 corticotropin releasing hormone receptor 2
CYBA cytochrome b-245, alpha polypeptide
CYP11A1 cytochrome P450, family 11, subfamily A, polypeptide 1
CYP17A1 cytochrome P450, family 17, subfamily A, polypeptide 1
CYP19A1 cytochrome P450, family 19, subfamily A, polypeptide 1
CYP1A1 cytochrome P450, family 1, subfamily A, polypeptide 1
CYP1A2 cytochrome P450, family 1, subfamily A, polypeptide 2
CYP1B1 cytochrome P450, family 1, subfamily B, polypeptide 1
CYP2A6 cytochrome P450, family 2, subfamily A, polypeptide 6
CYP2B6 cytochrome P450, family 2, subfamily B, polypeptide 6
CYP2C9 cytochrome P450, family 2, subfamily C, polypeptide 9
CYP3A4 cytochrome P450, family 3, subfamily A, polypeptide 4
CYP7A1 cytochrome P450, family 7, subfamily A, polypeptide 1
DBH dopamine beta-hydroxylase (dopamine beta-monooxygenase)
DDC dopa decarboxylase (aromatic L-amino acid decarboxylase)
DIAPH2 diaphanous-related formin 2
DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6
DOK5 docking protein 5
DOT1L DOT1-like histone H3K79 methyltransferase
DRD1 dopamine receptor D1
DRD2 dopamine receptor D2
DRD3 dopamine receptor D3
DRD5 dopamine receptor D5
EBF2 early B-cell factor 2
ECA1 epilepsy, childhood absence 1
ECT2 epithelial cell transforming 2
EIF2B2 eukaryotic translation initiation factor 2B, subunit 2 beta, 39kDa
EIF2B4 eukaryotic translation initiation factor 2B, subunit 4 delta, 67kDa
EIF2B5 eukaryotic translation initiation factor 2B, subunit 5 epsilon, 82kDa
ELF5 E74-like factor 5 (ets domain transcription factor)
EME1 essential meiotic structure-specific endonuclease 1
EML1 echinoderm microtubule associated protein like 1
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
F2 coagulation factor II (thrombin)
F5 coagulation factor V (proaccelerin, labile factor)
F7 coagulation factor VII (serum prothrombin conversion accelerator)
F8 coagulation factor VIII, procoagulant component
FAM46A family with sequence similarity 46, member A
FGB fibrinogen beta chain
FGFR1 fibroblast growth factor receptor 1
FGFR1OP2 FGFR1 oncogene partner 2
FMN2 formin 2
FMO1 flavin containing monooxygenase 1
FMO3 flavin containing monooxygenase 3
FMR1 fragile X mental retardation 1
FOXL2 forkhead box L2
FSHB follicle stimulating hormone, beta polypeptide
FSHR follicle stimulating hormone receptor
FST follistatin
FTO fat mass and obesity associated
GABBR2 gamma-aminobutyric acid (GABA) B receptor, 2
GABRB2 gamma-aminobutyric acid (GABA) A receptor, beta 2
GALT galactose-1-phosphate uridylyltransferase
GDF1 growth differentiation factor 1
GDF10 growth differentiation factor 10
GDF11 growth differentiation factor 11
GDF2 growth differentiation factor 2
GDF3 growth differentiation factor 3
GDF6 growth differentiation factor 6
GDF7 growth differentiation factor 7
GDF9 growth differentiation factor 9
GH1 growth hormone 1
GHR growth hormone receptor
GHRH growth hormone releasing hormone
GHRHR growth hormone releasing hormone receptor
GHRL ghrelin/obestatin prepropeptide
GNB3 guanine nucleotide binding protein (G protein), beta polypeptide 3
GNRH1 gonadotropin-releasing hormone 1 (luteinizing-releasing hormone)
GNRHR gonadotropin-releasing hormone receptor
GP1BA glycoprotein Ib (platelet), alpha polypeptide
GP6 glycoprotein VI (platelet)
GSTP1 glutathione S-transferase pi 1
HABP2 hyaluronan binding protein 2
HBB hemoglobin, beta
HBE1 hemoglobin, epsilon 1
HFE hemochromatosis
HIVEP1 human immunodeficiency virus type I enhancer binding protein 1
HSD17B1 hydroxysteroid (17-beta) dehydrogenase 1
HSD17B2 hydroxysteroid (17-beta) dehydrogenase 2
HSD17B3 hydroxysteroid (17-beta) dehydrogenase 3
HSD17B4 hydroxysteroid (17-beta) dehydrogenase 4
HSD3B1 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
HSD3B2 hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
HTR1A 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled
HTR2A 5-hydroxytryptamine (serotonin) receptor 2A, G protein-coupled
HTR2C 5-hydroxytryptamine (serotonin) receptor 2C, G protein-coupled
HTR5A 5-hydroxytryptamine (serotonin) receptor 5A, G protein-coupled
IGF1 insulin-like growth factor 1 (somatomedin C)
IGF1R insulin-like growth factor 1 receptor
IGF2 insulin-like growth factor 2
IGF2R insulin-like growth factor 2 receptor
IGFALS insulin-like growth factor binding protein, acid labile subunit
IGFBP1 insulin-like growth factor binding protein 1
IGFBP2 insulin-like growth factor binding protein 2, 36kDa
IGFBP3 insulin-like growth factor binding protein 3
IGFBP4 insulin-like growth factor binding protein 4
IGFBP5 insulin-like growth factor binding protein 5
IGFBP6 insulin-like growth factor binding protein 6
IL1A interleukin 1, alpha
IL1B interleukin 1, beta
IL1RN interleukin 1 receptor antagonist
IL6 interleukin 6
INHA inhibin, alpha
INHBA inhibin, beta A
INHBB inhibin, beta B
INHBC inhibin, beta C
INHBE inhibin, beta E
INS insulin
INSR insulin receptor
INSRR insulin receptor-related receptor
ITGA1 integrin, alpha 1
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)
ITGA3 integrin, alpha 3 (antigen CD49C, alpha 3 subunit of VLA-3 receptor)
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61)
JAK2 Janus kinase 2
KDSR 3-ketodihydrosphingosine reductase
KISS1 KiSS-1 metastasis-suppressor
KISS1R KISS1 receptor
KRAS Kirsten rat sarcoma viral oncogene homolog
LDLR low density lipoprotein receptor
LEFTY1 left-right determination factor 1
LEFTY2 left-right determination factor 2
LEP leptin
LEPR leptin receptor
LEPROTL1 leptin receptor overlapping transcript-like 1
LHB luteinizing hormone beta polypeptide
LHCGR luteinizing hormone/choriogonadotropin receptor
LIF leukemia inhibitory factor
LIPE lipase, hormone-sensitive
MAOA monoamine oxidase A
MAOB monoamine oxidase B
MAPK14 mitogen-activated protein kinase 14
MC2R melanocortin 2 receptor (adrenocorticotropic hormone)
MC3R melanocortin 3 receptor
MC4R melanocortin 4 receptor
MCHR1 melanin-concentrating hormone receptor 1
MFHAS1 malignant fibrous histiocytoma amplified sequence 1
MGP matrix Gla protein
MPL MPL proto-oncogene, thrombopoietin receptor
MSTN myostatin
MTHFR methylenetetrahydrofolate reductase (NAD(P)H)
MTR 5-methyltetrahydrofolate-homocysteine methyltransferase
MTRR 5-methyltetrahydrofolate-homocysteine methyltransferase reductase
NBN nibrin
NEK2 NIMA-related kinase 2
NEK4 NIMA-related kinase 4
NFKB1 nuclear factor of kappa light polypeptide gene enhancer in B-cells 1
NFKB2 nuclear factor of kappa light polypeptide gene enhancer in B-cells 2 (p49/p100)
NKX2-1 NK2 homeobox 1
NLRP5 NLR family, pyrin domain containing 5
NODAL nodal growth differentiation factor
NOG noggin
NOS2 nitric oxide synthase 2, inducible
NOS3 nitric oxide synthase 3 (endothelial cell)
NPY neuropeptide Y
NR0B2 nuclear receptor subfamily 0, group B, member 2
NR3C1 nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)
OPRD1 opioid receptor, delta 1
OPRK1 opioid receptor, kappa 1
OPRM1 opioid receptor, mu 1
PC pyruvate carboxylase
PCM1 pericentriolar material 1
PCSK1 proprotein convertase subtilisin/kexin type 1
PCSK9 proprotein convertase subtilisin/kexin type 9
PDYN prodynorphin
PENK proenkephalin
PGR progesterone receptor
PLAT plasminogen activator, tissue
PLIN1 perilipin 1
POF1B premature ovarian failure, 1B
POLG polymerase (DNA directed), gamma
POMC proopiomelanocortin
POU1F1 POU class 1 homeobox 1
PPARG peroxisome proliferator-activated receptor gamma
PPIF peptidylprolyl isomerase F
PRL prolactin
PRLR prolactin receptor
PROC protein C (inactivator of coagulation factors Va and VIIIa)
PROCR protein C receptor, endothelial
PROK2 prokineticin 2
PROKR2 prokineticin receptor 2
PROS1 protein S (alpha)
PROZ protein Z, vitamin K-dependent plasma glycoprotein
PTH1R parathyroid hormone 1 receptor
PTPN11 protein tyrosine phosphatase, non-receptor type 11
RETN resistin
ROCK1 Rho-associated, coiled-coil containing protein kinase 1
SCARB1 scavenger receptor class B, member 1
SCUBE2 signal peptide, CUB domain, EGF-like 2
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1
SHBG sex hormone-binding globulin
SIM1 single-minded family bHLH transcription factor 1
SLC12A7 solute carrier family 12 (potassium/chloride transporter), member 7
SLC2A12 solute carrier family 2 (facilitated glucose transporter), member 12
SLC2A6 solute carrier family 2 (facilitated glucose transporter), member 6
SLC6A3 solute carrier family 6 (neurotransmitter transporter), member 3
SLC6A4 solute carrier family 6 (neurotransmitter transporter), member 4
SMAD1 SMAD family member 1
SMAD2 SMAD family member 2
SMAD3 SMAD family member 3
SMAD4 SMAD family member 4
SMAD5 SMAD family member 5
SMAD6 SMAD family member 6
SMAD7 SMAD family member 7
SNCA synuclein, alpha (non A4 component of amyloid precursor)
SPAST spastin
SRD5A1 steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)
SRD5A2 steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
SREBF2 sterol regulatory element binding transcription factor 2
SST somatostatin
SSTR1 somatostatin receptor 1
SSTR2 somatostatin receptor 2
SSTR3 somatostatin receptor 3
SSTR4 somatostatin receptor 4
SSTR5 somatostatin receptor 5
STAR steroidogenic acute regulatory protein
SULT1A1 sulfotransferase family, cytosolic, 1A, phenol-preferring, member 1
TACC1 transforming, acidic coiled-coil containing protein 1
TAX1BP1 Tax1 (human T-cell leukemia virus type I) binding protein 1
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor)
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)
TGFBR3 transforming growth factor, beta receptor III
TH tyrosine hydroxylase
THBD thrombomodulin
TM7SF3 transmembrane 7 superfamily member 3
TNF tumor necrosis factor
TNFRSF1B tumor necrosis factor receptor superfamily, member 1B
TPH1 tryptophan hydroxylase 1
UCP1 uncoupling protein 1 (mitochondrial, proton carrier)
UCP2 uncoupling protein 2 (mitochondrial, proton carrier)
UCP3 uncoupling protein 3 (mitochondrial, proton carrier)
UGT1A1 UDP glucuronosyltransferase 1 family, polypeptide A1
UGT2B4 UDP glucuronosyltransferase 2 family, polypeptide B4
UGT2B7 UDP glucuronosyltransferase 2 family, polypeptide B7
VCAM1 vascular cell adhesion molecule 1
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor
VKORC1 vitamin K epoxide reductase complex, subunit 1
VWF von Willebrand factor
ZNF71 zinc finger protein 71
ZP1 zona pellucida glycoprotein 1 (sperm receptor)