MCID: THR015
MIFTS: 66

Thrombophilia malady

Blood diseases category

Summaries for Thrombophilia

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Thrombophilia (sometimes hypercoagulability or a prothrombotic state) is an abnormality of blood... more...

MalaCards: Thrombophilia, also known as hypercoagulability state, is related to factor v leiden thrombophilia and protein c deficiency. An important gene associated with Thrombophilia is HRG (histidine-rich glycoprotein), and among its related pathways are Cell adhesion Plasmin signaling and Selected targets of HNF1. The compounds warfarin and hirugen have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and placenta, and related mouse phenotypes are cardiovascular system and reproductive system.

Description from OMIM:46 188050

Aliases & Classifications for Thrombophilia

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8Disease Ontology, 20GeneTests, 22GTR, 10DISEASES, 44Novoseek, 60UMLS, 56SNOMED-CT, 46OMIM, 34MeSH
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Blood diseases


Aliases & Descriptions:

thrombophilia 8 20 22 10 44 60
hypercoagulability state 8


External Ids:

Disease Ontology8 DOID:2452
OMIM46 188050
MeSH34 D019851

Related Diseases for Thrombophilia

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Sources:
17GeneCards, 18GeneDecks
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Diseases in the Thrombophilia family:

Thrombophilia Due to Factor V Leiden Thrombophilia Due to Activated Protein C Resistance
Thrombophilia Due to Elevated Hrg Thrombophilia, Familial, Due to Decreased Release of Plat
Thrombophilia Due to Decreased Release of Tissue Plasminogen Thrombophilia Due to Thrombin Defect
Thrombophilia Due to Thrombomodulin Defect

Diseases related to Thrombophilia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 224)
idRelated DiseaseScoreTop Affiliating Genes
1factor v leiden thrombophilia31.0SERPINE1, SERPINC1, SERPIND1, THBD, F9, F5
2protein c deficiency30.6MTHFR, PROCR, PROS1, PROC, HRG, F2
3stroke, ischemic30.5F5, F2
4pulmonary embolism30.4SERPINC1, PLAT, PLG, F9, APOH, F5
5protein s deficiency30.4F9, F5, SERPINC1
6retinal vein occlusion30.4SERPINC1, APOH, F5, MTHFR
7antiphospholipid syndrome30.4APOH, SERPINC1, THBD, PLAT, F2, PROS1
8eclampsia30.3MTHFR, THBD, SERPINC1
9pre-eclampsia30.3APOH, F5, MTHFR, F2, PLAT, THBD
10myocardial infarction30.3SERPINC1, SERPINE1, PLAT, F9, F5, MTHFR
11ovarian hyperstimulation syndrome30.2F5
12hypertension30.2F5, MTHFR, PROS1, F2, PLG, PLAT
13retinal vascular occlusion30.2APOH, F5
14central retinal vein occlusion30.2APOH, F5, MTHFR, PLAT
15placental abruption30.2F5, MTHFR, SERPINC1
16portal vein thrombosis30.2F5, MTHFR, PROS1, F2, SERPINC1
17acute myocardial infarction30.2HRG, PLG, PLAT, THBD, SERPINE1, SERPINC1
18vascular disease30.1APOH, F5, MTHFR, F13A1, PLAT, THBD
19hyperhomocysteinemia30.1F9, APOH, F5, MTHFR, PROS1, HRG
20patent foramen ovale30.1F5
21ischemia30.1PLAT, PLG
22hellp syndrome30.1APOH, F5, MTHFR, SERPINE1, SERPINC1
23antithrombin iii deficiency30.1F2, SERPIND1, SERPINC1, PROS1, MTHFR, APOH
24sickle cell disease30.0F9
25coronary artery disease30.0F9, MTHFR, PLG, PLAT, THBD, SERPINE1
26diabetes mellitus30.0SERPINC1, SERPINE1, THBD, PLAT, PLG, PROS1
27adenocarcinoma30.0HABP2, F13A1, PROS1, PLG, THBD
28breast cancer30.0F9, MTHFR, PROCR, PLG, PLAT, SERPINE1
29polycythemia vera29.9THBD
30purpura29.9SERPINC1
31hemolytic-uremic syndrome29.9THBD
32obesity29.9SERPINE1
33nephrotic syndrome29.9F9, SERPINC1
34homocystinuria29.9F5, MTHFR, SERPINC1
35peripheral vascular disease29.9MTHFR, PLAT, THBD
36thrombophilia, x-linked, due to factor ix defect29.9EMB, F9
37leukemia29.9PLG, MTHFR, F9
38thromboembolism29.9F9, APOH, HABP2, F5, MTHFR, PROCR
39retinal artery occlusion29.7APOH
40thrombophlebitis29.7APOH
41central retinal artery occlusion29.7PLAT
42polycystic ovary syndrome29.7SERPINE1
43hepatitis29.7F9, F2
44branch retinal artery occlusion29.7F5
45cerebrovascular disease29.7APOH, MTHFR, F13A1
46factor xi deficiency29.7F2, F5, F9
47factor xii deficiency29.7F5, F13A1
48coronary thrombosis29.7SERPINC1, SERPINE1, PLAT
49factor x deficiency29.7F9, F5, F2
50thrombocytosis29.7F2, THBD, SERPINC1

Graphical network of the top 20 diseases related to Thrombophilia:



Diseases related to thrombophilia

Clinical Features for Thrombophilia

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46OMIM
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Clinical features from OMIM:

188050

Drugs & Therapeutics for Thrombophilia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Thrombophilia

Drug clinical trials:

Search ClinicalTrials for Thrombophilia

Search NIH Clinical Center for Thrombophilia

Search CenterWatch for Thrombophilia

Genetic Tests for Thrombophilia

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Sources:
20GeneTests, 22GTR
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Genetic tests related to Thrombophilia:

id Genetic test Affiliating Genes
1 Thrombophilia Multi-Gene Panels20
2 Thrombophilia20 22

Anatomical Context for Thrombophilia

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32MalaCards
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MalaCards organs/tissues related to Thrombophilia:

32
Testes, Liver, Placenta, Endothelial, Kidney, Bone, Heart, Colon, Breast, Thyroid, Ovary, Eye, Lung

Animal Models for Thrombophilia or affiliated genes

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36MGI
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MGI Mouse Phenotypes related to Thrombophilia:

36 (show all 12)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000538510.4F9, F13A1, FGG, F2, PLG, SERPIND1
2MP:000538910.4MTHFR, FGG, PLG, SERPINC1
3MP:000537010.3F9, F5, PROS1, PROC, PLG, THBD
4MP:001077110.3PROS1, F2, PLG
5MP:000538810.3F13A1, PROC, FGG, F2, PLG, PLAT
6MP:000538010.2PROCR, PROS1, FGG, F2, THBD, SERPINC1
7MP:000538710.2F9, PROCR, PROC, FGG, HRG, F2
8MP:000539710.1F9, F13A1, PROCR, PROS1, PROC, FGG
9MP:000537810.1F5, MTHFR, PROCR, PROC, FGG, F2
10MP:001076810.0PROS1, PROCR, F13A1, MTHFR, F5, APOH
11MP:000537610.0SERPINC1, F9, APOH, F5, MTHFR, F13A1
12MP:00036319.8F5, MTHFR, PROS1, PROC, F2, PLG

Publications for Thrombophilia

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Sources:
50PubMed
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Articles related to Thrombophilia:

(show top 50)    (show all 867)
idTitleAuthorsYear
1
Association between thrombophilia and the post-thrombotic syndrome: a systematic review and meta-analysis. (24406063)
2014
2
Thrombophilia and vascular risk factors in retinal vein occlusion. (23566482)
2013
3
To be or not to be: the patient's view of thrombophilia testing. (22177659)
2013
4
Primary thrombophilia in Mexico IX: the glycoprotein IIIa PLA1/A2 polymorphism is not associated with the sticky platelet syndrome phenotype. (22751911)
2013
5
Association between Thrombophilia and the Post-Thrombotic Syndrome. (23762560)
2013
6
C6 knock-out mice are protected from thrombophilia mediated by antiphospholipid antibodies. (22933620)
2012
7
Frequency of triple mutations involving factor V, prothrombin, and methylenetetrahydrofolate reductase genes among patients referred for molecular thrombophilia workup in a tertiary care center in Lebanon. (22023246)
2012
8
Role of polymorphisms in factor V (FV Leiden), prothrombin, plasminogen activator inhibitor type-1 (PAI-1), methylenetetrahydrofolate reductase (MTHFR) and cystathionine I^-synthase (CBS) genes as risk factors for thrombophilias. (22512572)
2012
9
Lack of association between polymorphisms in the interleukin-1 gene cluster and familial thrombophilia. (21839492)
2012
10
Comparison of uterine artery Doppler in pregnant women with thrombophilia treated by LMWHs and without thrombophilia. (22526451)
2012
11
Thrombophilia, left ventricular dysfunction and intracardiac thrombi in children. (21949529)
2011
12
Analysis of thrombophilic genetic mutations in patients with Sheehan's syndrome: is thrombophilia responsible for the pathogenesis of Sheehan's syndrome? (21107737)
2011
13
Role of thrombophilia in vascular access thrombosis among chronic hemodialysis patients in Tunisia. (21272251)
2011
14
Low molecular weight heparin versus no treatment in women with previous severe pregnancy complications and placental findings without thrombophilia. (21192252)
2011
15
Hereditary thrombophilia and recurrence of ischemic placental disease. (19782960)
2010
16
Frequency of thrombophilia determinant factors in patients with livedoid vasculopathy and treatment with anticoagulant drugs--a prospective study. (20337814)
2010
17
Prevalence of common thrombophilia markers and risk factors in Indian patients with primary venous thrombosis. (21181065)
2010
18
Hereditary thrombophilia and recurrent pregnancy loss: a retrospective cohort study of pregnancy outcome and obstetric complications. (20937743)
2010
19
Inherited thrombophilia in infertile women: implication in unexplained infertility. (19939360)
2010
20
Non-arteritic anterior ischemic optic neuropathy and thrombophilia. (18958485)
2009
21
Haemorrhagic transformation of cerebral infarction in an AIDS patient--thrombophilia screen essential! (19833695)
2009
22
Influence of the JAK2 V617F mutation and inherited thrombophilia on the thrombotic risk among patients with essential thrombocythemia. (19336736)
2009
23
Safety and long-term results of patent foramen ovale transcatheter closure in patients with thrombophilia. (19513009)
2009
24
Role of thrombophilia in adverse obstetric outcomes and their prevention using antithrombotic therapy. (20013530)
2009
25
Oral contraceptive pills and inherited thrombophilia in a young woman with deep venous thrombosis. (19469449)
2009
26
Methodological issues in genetic association studies of inherited thrombophilia: original report of recent practice. (18387985)
2009
27
Social and ethical controversies in thrombophilia testing and update on genetic risk factors for venous thromboembolism. (19085654)
2008
28
Multifactorial thrombophilia in a pregnancy: a case report. (17895510)
2008
29
Venous thromboembolism, thrombophilia, antithrombotic therapy, and pregnancy: American College of Chest Physicians Evidence-Based Clinical Practice Guidelines (8th Edition). (18574280)
2008
30
Hypercoagulation and thrombophilia in liver disease. (17892532)
2008
31
The role of thrombophilia and thyroid autoimmunity in unexplained infertility, implantation failure and recurrent spontaneous abortion. (18070829)
2008
32
Influence of thrombophilia on risk of recurrent venous thromboembolism while on warfarin: results from a randomized trial. (18791166)
2008
33
Thrombophilia and location of venous thromboembolism. (17666017)
2007
34
Inherited thrombophilia in recurrent spontaneous abortion among Chinese women. (16417907)
2006
35
Thrombophilias in patients with ischemic stroke. Indication and calculated costs for evidence-based diagnostics and treatment]. (15338141)
2005
36
Risk of a first venous thrombotic event in carriers of a familial thrombophilic defect. The European Prospective Cohort on Thrombophilia (EPCOT). (15748234)
2005
37
Coronary heart disease among Circassians in Israel is not associated with mutations in thrombophilia genes. (12713146)
2003
38
Inherited thrombophilias are not increased in "idiopathic" small-for-gestational-age pregnancies. (12712097)
2003
39
Thrombophilias as risk factors for disorders of pregnancy and fetal damage. (13679665)
2002
40
Recurrent pregnancy loss: etiology of thrombophilia. (11372765)
2001
41
Do placental lesions reflect thrombophilia state in women with adverse pregnancy outcome? (10920112)
2000
42
Thrombophilia. (10468143)
1999
43
Congenital thrombophilia and thrombosis: a study in a single centre. (10490533)
1999
44
Low-molecular-weight heparin combined with aspirin in pregnant women with thrombophilia and a history of preeclampsia or fetal growth restriction: a preliminary study. (9758259)
1998
45
Prevalence of factor V Leiden (APCR) and other inherited thrombophilias in young patients with myocardial infarction and normal coronary arteries. (9875108)
1998
46
Activated protein C resistance as a cause of thrombophilia]. (8966383)
1996
47
Acquired protein C dysfunction but not decreased activity of thrombomodulin is a possible marker of thrombophilia in patients with lupus anticoagulant. (7822946)
1995
48
Familial dysfibrinogenemia and thrombophilia. Report on a study of the SSC Subcommittee on Fibrinogen. (7740487)
1995
49
Homozygous type I protein C deficiency in two unrelated families exhibiting thrombophilia related to Ala136-->Pro or Arg286-->His mutations. (7878626)
1994
50
Inherited thrombophilia]. (7998473)
1994

Genetic Variations for Thrombophilia

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Expression for genes affiliated with Thrombophilia

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Thrombophilia

Search GEO for disease gene expression data for Thrombophilia.

Pathways for genes affiliated with Thrombophilia

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Sources:
12EMD Millipore, 53Reactome, 49PharmGKB, 37NCBI BioSystems Database, 51QIAGEN, 52R&D Systems, 29KEGG
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Pathways related to Thrombophilia according to GeneCards/GeneDecks:

(show all 15)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
110.3PLAT, PLG, FGG
210.3PROC, F13A1, APOH
310.3PROS1, PROC, F2, THBD
410.3F9, PROS1, PROC, F2
5
Hide members
10.3F2, PROC, PROS1, F9
610.3HRG, PLG, PLAT, SERPINE1
7
Cell adhesion ECM remodeling
Hide members
10.3SERPINE1, PLAT, PLG, FGG
8
Hide members
10.3FGG, HRG, F2, PLG, THBD
9
Hide members
10.3F9, F5, F13A1, PROS1, PROC
1010.3MTHFR, F2, PLG, PLAT, SERPINE1
11
Hide members
10.2F5, F13A1, PROS1, FGG, HRG, PLG
12
Hide members
10.1F5, F13A1, PROS1, PROC, FGG, F2
13
Hide members
10.0PROC, FGG, F2, PLG, THBD, SERPINE1
14
Hide members
9.9F9, F5, F13A1, PROS1, PROC, FGG
15
Hide members
9.9PROC, FGG, F2, PLG, PLAT, THBD

Compounds for genes affiliated with Thrombophilia

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Sources:
44Novoseek, 49PharmGKB, 11DrugBank, 24HMDB, 59Tocris Bioscience, 28IUPHAR
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Compounds related to Thrombophilia according to GeneCards/GeneDecks:

(show top 50)    (show all 163)
idCompoundScoreTop Affiliating Genes
1warfarin44 49 11 2413.7F9, APOH, PROC, SERPINC1
2hirugen4410.7F2, F5, SERPINC1, THBD
3batroxobin4410.7SERPINE1, F2, PLAT, F5
4coumarins4410.7F9, APOH
5spectrozyme4410.7SERPINC1, F2, F5, PLAT
6heparinoids4410.7SERPINC1, F13A1, F2, THBD, F5
7fondaparinux4410.7SERPINC1, THBD, PLAT, F9, F5, F2
8bivalirudin44 1111.7F5, F2, PLAT, THBD, SERPINC1
9Drotrecogin alfa1110.7PROCR, PROS1, F2, THBD, SERPINE1, F5
10ancrod4410.7F5, F2, PLAT, THBD, SERPINE1, SERPINC1
11benzamidine44 1111.7F5, THBD, SERPINC1, PLG, F9
12argatroban44 1111.7SERPINC1, THBD, PLAT, F2, F5
13fibrinopeptide a4410.6PLAT, F2, SERPINC1, THBD
14aprotinin44 1111.6THBD, SERPINC1, SERPINE1, PLAT, F5, F9
15serine4410.6SERPIND1, F9, PROCR, PLG, HRG, PROS1
16gamma-carboxyglutamic acid4410.6F9, F5, PROCR, PROS1, PROC, F2
17ristocetin4410.6SERPINC1, F9, F5, F2, PLAT
18epsilon aminocaproic acid4410.6SERPINC1, F9, HRG, F2, PLG, PLAT
19tranexamic acid44 1111.6F2, PLG, PLAT, SERPINE1, F9, SERPINC1
20p-amino benzamidine4410.6SERPINE1, PLAT, SERPINC1, F9
21kaolin4410.6APOH, F9, F2, F5
22ximelagatran44 1111.6F5, F2, SERPINC1, THBD
2311-dehydrothromboxane b24410.6APOH, F2, SERPINE1, THBD
24desmopressin44 59 28 1113.6F5, F2, PLAT, THBD, F9, SERPINE1
25dermatan sulfate4410.6F9, F5, HRG, F2, PLAT, SERPINC1
26phosphatidylethanolamine44 1111.6F9, F2, HABP2, F5, PROCR, APOH
27protamine sulfate4410.6F5, PLAT, SERPINC1, F2
28heparin44 28 11 2413.6SERPIND1, PLG, HRG, PROS1, F13A1, MTHFR
29pge14410.6APOH, THBD, PLAT, SERPINE1, F5, F2
30hirudin4410.6SERPINE1, SERPINC1, PLAT, THBD, F2, F9
31protamine4410.5SERPINC1, PLAT, F2, F5, SERPINE1
32homocysteine44 2411.5F2, PLAT, THBD, SERPINE1, SERPINC1, MTHFR
33cyclophosphamide44 49 1112.5F5, MTHFR, APOH, THBD
34prostacyclin4410.5PROS1, PLAT, F5, THBD, SERPINE1, SERPINC1
35phospholipid4410.5F2, THBD, PROC, PROS1, PROCR, F5
36dextran sulfate4410.5APOH, F9, HABP2, F5, SERPINC1
37menadione44 11 2412.5F9, MTHFR, PROS1, F2, PROC
38aspirin44 49 28 2413.5APOH, MTHFR, F13A1, F2, PLAT, THBD
39heparin sodium4410.5THBD, PLAT, F2
40creatinine4410.4THBD, SERPINC1, F9, SERPINE1, PLAT, MTHFR
41inogatran4410.4SERPINC1, F2, F5
42kininogen4410.4APOH, HABP2, F9, F5, THBD, SERPINE1
43heparan sulfate44 2411.4SERPINC1, SERPINE1, THBD, HABP2, PLAT, HRG
44endotoxin4410.4THBD, SERPINE1, F5, PROCR, APOH, F9
45ecarin4410.3F2, SERPINC1, F5
46vegf4410.3SERPINC1, SERPINE1, APOH, THBD, PLG, F5
47fibrinogen4410.2SERPINC1, SERPINE1, SERPIND1, THBD, PLAT, PLG
48estrogen4410.1MTHFR, F5, F9, F13A1, F2, SERPINC1
49cholesterol44 28 11 2413.0PLAT, PROS1, MTHFR, F5, APOH, F9
50levonorgestrel44 59 28 1113.0F2, PLAT, F5, SERPINC1

GO Terms for genes affiliated with Thrombophilia

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16Gene Ontology
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Cellular components related to Thrombophilia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1platelet alpha granule lumenGO:03109310.3SERPINE1, F5, F13A1, PROS1, FGG, HRG
2Golgi lumenGO:00579610.2F9, PROS1, PROC, F2
3plasma membraneGO:00588610.1F5, PROC, FGG, HRG, F2, PLG
4extracellular spaceGO:00561510.0APOH, HABP2, F5, FGG, F2, PLG
5cell surfaceGO:00998610.0APOH, FGG, PLG, PLAT, THBD
6extracellular regionGO:00557610.0PROC, PROS1, F13A1, F5, HABP2, F9

Biological processes related to Thrombophilia according to GeneCards/GeneDecks:

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1peptidyl-glutamic acid carboxylationGO:01718710.6F9, PROS1, PROC, F2
2positive regulation of blood coagulationGO:03019410.6APOH, F2, SERPINE1
3negative regulation of blood coagulationGO:03019510.6APOH, SERPINE1, THBD, PROC
4fibrinolysisGO:04273010.5PROS1, F2, PLG, HRG, PLAT, SERPINE1
5negative regulation of fibrinolysisGO:05191810.5HRG, F2, PLG, THBD, APOH, SERPINE1
6blood coagulation, intrinsic pathwayGO:00759710.5APOH, F2, F9
7negative regulation of endopeptidase activityGO:01095110.5SERPINC1, SERPINE1, SERPIND1, PROS1
8negative regulation of cell adhesion mediated by integrinGO:03362910.5SERPINE1, HRG
9platelet degranulationGO:00257610.5SERPINE1, F5, F13A1, PLG, HRG, PROS1
10leukocyte migrationGO:05090010.5F2, THBD, PROC, PROS1
11platelet activationGO:03016810.4PLG, HRG, FGG, PROS1, F13A1, F5
12proteolysisGO:00650810.4PLAT, F2, HABP2, F9, PROC, PROS1
13negative regulation of platelet activationGO:01054410.4F2, THBD
14post-translational protein modificationGO:04368710.4PROS1, F2, PROC, F9
15plasminogen activationGO:03163910.4APOH, PLAT
16regulation of blood coagulationGO:03019310.3F2, HRG
17blood coagulationGO:00759610.2HRG, SERPIND1, THBD, PLAT, PLG, F2
18cellular protein metabolic processGO:04426710.0PLG, PROS1, PROC, F2, F9

Molecular functions related to Thrombophilia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:00820110.3SERPINC1, SERPIND1, HRG, APOH
2serine-type endopeptidase activityGO:00425210.1PLAT, PLG, F2, PROC, HABP2, F9
3serine-type endopeptidase inhibitor activityGO:00486710.0HRG, SERPIND1, SERPINE1, SERPINC1

Products for genes affiliated with Thrombophilia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Thrombophilia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet