thrombophilia Gene Set

Dataset DISEASES Text-mining Gene-Disease Assocation Evidence Scores
Category disease or phenotype associations
Type disease
Description OMIM mapping confirmed by DO. [LS]. (Human Disease Ontology, DOID_2452)
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Genes

272 genes co-occuring with the disease thrombophilia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
F5 coagulation factor V (proaccelerin, labile factor) 3.30818
ADAMTS13 ADAM metallopeptidase with thrombospondin type 1 motif, 13 3.23979
SERPINC1 serpin peptidase inhibitor, clade C (antithrombin), member 1 3.20181
PROS1 protein S (alpha) 3.08409
F2 coagulation factor II (thrombin) 2.95661
F3 coagulation factor III (thromboplastin, tissue factor) 2.73624
VWF von Willebrand factor 2.47474
THBD thrombomodulin 2.29098
MTHFR methylenetetrahydrofolate reductase (NAD(P)H) 2.28577
PLG plasminogen 2.07991
F8 coagulation factor VIII, procoagulant component 2.00791
SERPINF2 serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 2 1.88205
TFPI tissue factor pathway inhibitor (lipoprotein-associated coagulation inhibitor) 1.8151
F7 coagulation factor VII (serum prothrombin conversion accelerator) 1.6877
SERPINE1 serpin peptidase inhibitor, clade E (nexin, plasminogen activator inhibitor type 1), member 1 1.65295
SERPIND1 serpin peptidase inhibitor, clade D (heparin cofactor), member 1 1.59028
COX5A cytochrome c oxidase subunit Va 1.56667
PLAT plasminogen activator, tissue 1.55247
PROC protein C (inactivator of coagulation factors Va and VIIIa) 1.51633
F12 coagulation factor XII (Hageman factor) 1.49569
APOH apolipoprotein H (beta-2-glycoprotein I) 1.40701
PROCR protein C receptor, endothelial 1.36161
CPB2 carboxypeptidase B2 (plasma) 1.31886
F10 coagulation factor X 1.30794
CD46 CD46 molecule, complement regulatory protein 1.23646
F9 coagulation factor IX 1.19273
FDPS farnesyl diphosphate synthase 1.18453
CABIN1 calcineurin binding protein 1 1.16093
PIGA phosphatidylinositol glycan anchor biosynthesis, class A 1.14687
PF4 platelet factor 4 1.1422
ST8SIA2 ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 2 1.13163
TAF1 TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa 1.10048
HP haptoglobin 1.08537
CFH complement factor H 1.07992
HPR haptoglobin-related protein 1.07824
SERPINA5 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5 1.07824
C4BPB complement component 4 binding protein, beta 1.05892
PTER phosphotriesterase related 1.04167
NONO non-POU domain containing, octamer-binding 0.979268
HRG histidine-rich glycoprotein 0.962053
SELP selectin P (granule membrane protein 140kDa, antigen CD62) 0.947435
CRP C-reactive protein, pentraxin-related 0.904854
TNF tumor necrosis factor 0.886799
ABO ABO blood group (transferase A, alpha 1-3-N-acetylgalactosaminyltransferase; transferase B, alpha 1-3-galactosyltransferase) 0.876966
ASRGL1 asparaginase like 1 0.874919
FBL fibrillarin 0.86714
THBS1 thrombospondin 1 0.865912
ALB albumin 0.84585
PPIC peptidylprolyl isomerase C (cyclophilin C) 0.828229
ITGB3 integrin, beta 3 (platelet glycoprotein IIIa, antigen CD61) 0.818385
IL6 interleukin 6 0.815514
PPBP pro-platelet basic protein (chemokine (C-X-C motif) ligand 7) 0.808129
FBLL1 fibrillarin-like 1 0.806898
AGO2 argonaute RISC catalytic component 2 0.800333
FN1 fibronectin 1 0.794591
ELANE elastase, neutrophil expressed 0.784345
KLKB1 kallikrein B, plasma (Fletcher factor) 1 0.768801
TSR1 TSR1, 20S rRNA accumulation, homolog (S. cerevisiae) 0.763086
STX2 syntaxin 2 0.752085
RARA retinoic acid receptor, alpha 0.74761
STX1A syntaxin 1A (brain) 0.734217
C5 complement component 5 0.733811
TREML1 triggering receptor expressed on myeloid cells-like 1 0.718846
MB myoglobin 0.716425
ITGA2B integrin, alpha 2b (platelet glycoprotein IIb of IIb/IIIa complex, antigen CD41) 0.707961
FAM155B family with sequence similarity 155, member B 0.690694
JAK2 Janus kinase 2 0.682294
CD55 CD55 molecule, decay accelerating factor for complement (Cromer blood group) 0.674713
C5AR1 complement component 5a receptor 1 0.674315
SELE selectin E 0.666755
GOT1 glutamic-oxaloacetic transaminase 1, soluble 0.665563
GOT2 glutamic-oxaloacetic transaminase 2, mitochondrial 0.665563
SERPINA10 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 10 0.66199
FGB fibrinogen beta chain 0.660008
POU2F3 POU class 2 homeobox 3 0.656441
IL1B interleukin 1, beta 0.624143
ACE angiotensin I converting enzyme 0.617094
KNG1 kininogen 1 0.606152
CDSN corneodesmosin 0.595233
F13A1 coagulation factor XIII, A1 polypeptide 0.592506
MMP25 matrix metallopeptidase 25 0.584719
HABP2 hyaluronan binding protein 2 0.581217
ALPPL2 alkaline phosphatase, placental-like 2 0.58005
ALPP alkaline phosphatase, placental 0.579661
ALPL alkaline phosphatase, liver/bone/kidney 0.578883
GP1BA glycoprotein Ib (platelet), alpha polypeptide 0.561781
F13B coagulation factor XIII, B polypeptide 0.555568
C4BPA complement component 4 binding protein, alpha 0.550522
ANXA5 annexin A5 0.548971
HMGB1 high mobility group box 1 0.541605
MRPL37 mitochondrial ribosomal protein L37 0.541217
PLAU plasminogen activator, urokinase 0.537344
F11 coagulation factor XI 0.529994
TSR2 TSR2, 20S rRNA accumulation, homolog (S. cerevisiae) 0.520346
CD33 CD33 molecule 0.513033
PATE1 prostate and testis expressed 1 0.501909
ANXA2 annexin A2 0.477909
VEGFA vascular endothelial growth factor A 0.469197
PTGIR prostaglandin I2 (prostacyclin) receptor (IP) 0.469197
MAEA macrophage erythroblast attacher 0.467684
HLA-C major histocompatibility complex, class I, C 0.452585
ACOT12 acyl-CoA thioesterase 12 0.452208
CD79A CD79a molecule, immunoglobulin-associated alpha 0.449194
DGKE diacylglycerol kinase, epsilon 64kDa 0.446182
SUGCT succinyl-CoA:glutarate-CoA transferase 0.446182
FRG1B FSHD region gene 1 family, member B 0.445429
CD4 CD4 molecule 0.444676
C3 complement component 3 0.431894
CMPK2 cytidine monophosphate (UMP-CMP) kinase 2, mitochondrial 0.430393
SERPINA1 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 1 0.428891
SERPINB1 serpin peptidase inhibitor, clade B (ovalbumin), member 1 0.424765
F2R coagulation factor II (thrombin) receptor 0.424014
MPO myeloperoxidase 0.421765
VCAM1 vascular cell adhesion molecule 1 0.419892
SLC25A10 solute carrier family 25 (mitochondrial carrier; dicarboxylate transporter), member 10 0.396725
S100A10 S100 calcium binding protein A10 0.396353
ICAM1 intercellular adhesion molecule 1 0.395608
CXCL8 chemokine (C-X-C motif) ligand 8 0.387794
PIK3C2A phosphatidylinositol-4-phosphate 3-kinase, catalytic subunit type 2 alpha 0.382966
FTH1 ferritin, heavy polypeptide 1 0.378514
FTL ferritin, light polypeptide 0.378514
EHD4 EH-domain containing 4 0.377773
CD40LG CD40 ligand 0.36741
POFUT2 protein O-fucosyltransferase 2 0.364085
NCAM1 neural cell adhesion molecule 1 0.363716
FGG fibrinogen gamma chain 0.361502
SUMF1 sulfatase modifying factor 1 0.360395
NAAA N-acylethanolamine acid amidase 0.35892
THPO thrombopoietin 0.357814
PHF12 PHD finger protein 12 0.357814
ADAMTS1 ADAM metallopeptidase with thrombospondin type 1 motif, 1 0.355235
EDEM2 ER degradation enhancer, mannosidase alpha-like 2 0.351187
SRY sex determining region Y 0.347511
SERP1 stress-associated endoplasmic reticulum protein 1 0.341639
CFHR1 complement factor H-related 1 0.339806
IL31RA interleukin 31 receptor A 0.3292
NCK1 NCK adaptor protein 1 0.320817
ADAMTS10 ADAM metallopeptidase with thrombospondin type 1 motif, 10 0.316819
IL2RA interleukin 2 receptor, alpha 0.312464
RCSD1 RCSD domain containing 1 0.308118
OR10K2 olfactory receptor, family 10, subfamily K, member 2 0.305587
MFGE8 milk fat globule-EGF factor 8 protein 0.304864
CD34 CD34 molecule 0.30342
OR6B1 olfactory receptor, family 6, subfamily B, member 1 0.294772
NOS3 nitric oxide synthase 3 (endothelial cell) 0.292257
CD59 CD59 molecule, complement regulatory protein 0.289027
HUNK hormonally up-regulated Neu-associated kinase 0.285444
NOL4L nucleolar protein 4-like 0.278654
COX6A1 cytochrome c oxidase subunit VIa polypeptide 1 0.270464
CBS cystathionine-beta-synthase 0.269398
SERPINA4 serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 4 0.267267
RPL21 ribosomal protein L21 0.266913
DLL1 delta-like 1 (Drosophila) 0.257005
EHD3 EH-domain containing 3 0.253127
KIAA0101 KIAA0101 0.251015
IGLV9-49 immunoglobulin lambda variable 9-49 0.226262
CD36 CD36 molecule (thrombospondin receptor) 0.221793
MCAM melanoma cell adhesion molecule 0.209918
PAFAH1B2 platelet-activating factor acetylhydrolase 1b, catalytic subunit 2 (30kDa) 0.207912
LDB2 LIM domain binding 2 0.20658
SEBOX SEBOX homeobox 0.205916
CFI complement factor I 0.201308
SELPLG selectin P ligand 0.200982
CYP4V2 cytochrome P450, family 4, subfamily V, polypeptide 2 0.19742
SHOX short stature homeobox 0.196779
ITGAM integrin, alpha M (complement component 3 receptor 3 subunit) 0.194232
FGA fibrinogen alpha chain 0.192031
RAB22A RAB22A, member RAS oncogene family 0.187415
GGA2 golgi-associated, gamma adaptin ear containing, ARF binding protein 2 0.184128
JTB jumping translocation breakpoint 0.183835
GP6 glycoprotein VI (platelet) 0.181798
SCARB2 scavenger receptor class B, member 2 0.180367
KAT8 K(lysine) acetyltransferase 8 0.174354
HIST1H2BI histone cluster 1, H2bi 0.173314
HIST1H2BG histone cluster 1, H2bg 0.173314
HIST1H2BE histone cluster 1, H2be 0.173314
TIA1 TIA1 cytotoxic granule-associated RNA binding protein 0.171286
SERPINB2 serpin peptidase inhibitor, clade B (ovalbumin), member 2 0.170299
MRPL12 mitochondrial ribosomal protein L12 0.169091
TNNT2 troponin T type 2 (cardiac) 0.169091
ITIH4 inter-alpha-trypsin inhibitor heavy chain family, member 4 0.168854
MMACHC methylmalonic aciduria (cobalamin deficiency) cblC type, with homocystinuria 0.166319
ADAMTS20 ADAM metallopeptidase with thrombospondin type 1 motif, 20 0.165655
SCUBE2 signal peptide, CUB domain, EGF-like 2 0.164149
ZNF85 zinc finger protein 85 0.163317
IFNB1 interferon, beta 1, fibroblast 0.162505
ADAMTSL4 ADAMTS-like 4 0.161331
TIAL1 TIA1 cytotoxic granule-associated RNA binding protein-like 1 0.159658
ACPP acid phosphatase, prostate 0.158266
AFP alpha-fetoprotein 0.158097
DNAJC6 DnaJ (Hsp40) homolog, subfamily C, member 6 0.137581
ADAMTSL2 ADAMTS-like 2 0.136439
FGL2 fibrinogen-like 2 0.136409
GPR182 G protein-coupled receptor 182 0.135846
HSH2D hematopoietic SH2 domain containing 0.135824
CFHR3 complement factor H-related 3 0.135657
ADAMTS17 ADAM metallopeptidase with thrombospondin type 1 motif, 17 0.135452
MAP6 microtubule-associated protein 6 0.134408
RBMS2 RNA binding motif, single stranded interacting protein 2 0.134237
SCARB1 scavenger receptor class B, member 1 0.133631
APLN apelin 0.133193
CMIP c-Maf inducing protein 0.132782
FKBP9 FK506 binding protein 9, 63 kDa 0.131919
FKBP7 FK506 binding protein 7 0.131816
CD7 CD7 molecule 0.131712
FKBP3 FK506 binding protein 3, 25kDa 0.131288
CEMP1 cementum protein 1 0.131233
KIF3B kinesin family member 3B 0.131178
MASP1 mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor) 0.130863
CFB complement factor B 0.130731
GLRA2 glycine receptor, alpha 2 0.130712
FKBP6 FK506 binding protein 6, 36kDa 0.130558
PROS2P protein S (beta) pseudogene 0.130538
KCNK2 potassium channel, two pore domain subfamily K, member 2 0.130422
S1PR3 sphingosine-1-phosphate receptor 3 0.129921
ZNF165 zinc finger protein 165 0.129735
MON2 MON2 homolog (S. cerevisiae) 0.12944
LEMD3 LEM domain containing 3 0.12916
TMX1 thioredoxin-related transmembrane protein 1 0.128918
ETV6 ets variant 6 0.128806
STAC SH3 and cysteine rich domain 0.128783
NLRP5 NLR family, pyrin domain containing 5 0.128715
GZMB granzyme B (granzyme 2, cytotoxic T-lymphocyte-associated serine esterase 1) 0.128715
CDKN2A cyclin-dependent kinase inhibitor 2A 0.128418
TENM4 teneurin transmembrane protein 4 0.128394
PLA2G1B phospholipase A2, group IB (pancreas) 0.12816
DSG4 desmoglein 4 0.128113
STX1B syntaxin 1B 0.127454
MTOR mechanistic target of rapamycin (serine/threonine kinase) 0.126945
KLK3 kallikrein-related peptidase 3 0.126919
MPLKIP M-phase specific PLK1 interacting protein 0.126684
PPP6R2 protein phosphatase 6, regulatory subunit 2 0.126631
CLEC1B C-type lectin domain family 1, member B 0.126444
PLCD1 phospholipase C, delta 1 0.12631
IL10 interleukin 10 0.126283
TP63 tumor protein p63 0.126145
REN renin 0.126062
CXCL1 chemokine (C-X-C motif) ligand 1 (melanoma growth stimulating activity, alpha) 0.125952
LDHC lactate dehydrogenase C 0.125557
ADAMTS4 ADAM metallopeptidase with thrombospondin type 1 motif, 4 0.125471
TCN1 transcobalamin I (vitamin B12 binding protein, R binder family) 0.125443
SRRM2 serine/arginine repetitive matrix 2 0.125064
CCNF cyclin F 0.124768
DIAPH2 diaphanous-related formin 2 0.124676
FKBP2 FK506 binding protein 2, 13kDa 0.124463
IGHV3-9 immunoglobulin heavy variable 3-9 0.124402
ZCCHC7 zinc finger, CCHC domain containing 7 0.12387
TMPRSS13 transmembrane protease, serine 13 0.123776
TBXAS1 thromboxane A synthase 1 (platelet) 0.123744
NFKBIE nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, epsilon 0.123289
CDC27 cell division cycle 27 0.122754
CHRM4 cholinergic receptor, muscarinic 4 0.122412
FCRL4 Fc receptor-like 4 0.122064
MARCKS myristoylated alanine-rich protein kinase C substrate 0.121994
CFHR5 complement factor H-related 5 0.121994
SLC43A2 solute carrier family 43 (amino acid system L transporter), member 2 0.121743
CAMP cathelicidin antimicrobial peptide 0.121707
RNF25 ring finger protein 25 0.121599
LECT2 leukocyte cell-derived chemotaxin 2 0.121491
OPLAH 5-oxoprolinase (ATP-hydrolysing) 0.120063
AK6 adenylate kinase 6 0.119826
MCM8 minichromosome maintenance complex component 8 0.119667
HPN hepsin 0.119349
FAM134B family with sequence similarity 134, member B 0.119145
CDK13 cyclin-dependent kinase 13 0.119063
SERPING1 serpin peptidase inhibitor, clade G (C1 inhibitor), member 1 0.119022
PRTN3 proteinase 3 0.118442
LBP lipopolysaccharide binding protein 0.118272
FBN1 fibrillin 1 0.118145
FKBP10 FK506 binding protein 10, 65 kDa 0.118103
DSG1 desmoglein 1 0.11806
SNRPN small nuclear ribonucleoprotein polypeptide N 0.118018