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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Sources:
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
See all sources

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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Sources:
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
See all sources

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, Ovary, Breast, Thyroid, Lung, Colon, Eye

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
Oral anticoagulant therapy does not modify the bleeding pattern associated with the levonorgestrel-releasing intrauterine system in women with thrombophilia and/or a history of thrombosis. (24183329)
2014
2
Testosterone Therapy, Thrombophilia-Hypofibrinolysis, and Hospitalization for Deep Venous Thrombosis-Pulmonary Embolus: An Exploratory, Hypothesis-Generating Study. (23925401)
2013
3
Right atrial thrombosis and pulmonary embolism after atrial septal defect repair: could it be hereditary thrombophilia? (22627664)
2012
4
Low molecular weight heparin treatment during subsequent pregnancies of women with inherited thrombophilia and previous severe pregnancy complications. (21231837)
2011
5
Acquired and inherited thrombophilia disorders in pregnancy. (21575801)
2011
6
Prevalence rate for inherited thrombophilia in patients with chronic and recurrent venous leg ulceration. (22092793)
2011
7
Thrombophilia and pre-eclampsia. (21370209)
2011
8
Paget-Schroetter syndrome forerunning the diagnoses of thoracic outlet syndrome and thrombophilia. (19244272)
2010
9
Inherited thrombophilia polymorphisms and pregnancy outcomes in nulliparous women. (20027027)
2010
10
Congenital thrombophilia and central venous catheter-related thrombosis in patients with cancer. (20530049)
2010
11
Comparison of serum markers for thrombophilia and autoimmune disease in reproductive age women with and without false positive rapid plasma reagin tests. (19614623)
2009
12
Independent risk factors for cesarean section among women with thrombophilia. (19488939)
2009
13
Sex-related type of venous thromboembolism in patients with and without thrombophilia. (19572085)
2009
14
Genetic thrombophilias and intrauterine growth restriction: a meta-analysis. (19461414)
2009
15
The Saudi Thrombosis and Familial Thrombophilia Registry. Design, rational, and preliminary results. (19838435)
2009
16
Higher prevalence of thrombophilia in patients with varicose veins and venous ulcers than controls. (19307088)
2009
17
Thrombophilia and hypercoagulability. (19797918)
2009
18
Free flap failure secondary to dual thrombophilia. (18833574)
2009
19
Thromboangiitis obliterans and the inherited thrombophilias: does an association merit consideration? (19300047)
2009
20
Thrombophilia and transient risk factors for venous thromboembolism in women with distal deep vein thrombosis. (19996640)
2008
21
Risk of thrombosis with anomalies of the inferior vena cava and inherited thrombophilia. (18852605)
2008
22
Cerebral sinovenous thrombosis in children: thrombophilia and clinical outcome. (17675220)
2008
23
Thrombophilia and unexplained pregnancy loss in Indian patients. (19004141)
2008
24
Thrombophilia: an update. (17768688)
2007
25
The prevalence of thrombophilia and venous thromboembolism in total knee arthroplasty. (17710975)
2007
26
Anticoagulant therapy and thromboprophylaxis in patients with thrombophilia. (17828548)
2007
27
Efficacy of family history in determining thrombophilia risk. (17673133)
2007
28
Thrombophilias and recurrent pregnancy loss. (16418978)
2006
29
Screening for thrombophilia in high-risk situations: systematic review and cost-effectiveness analysis. The Thrombosis: Risk and Economic Assessment of Thrombophilia Screening (TREATS) study. (16595080)
2006
30
Renal vascular sclerosis is associated with inherited thrombophilias. (16760910)
2006
31
Thrombophilia testing in patients with venous thrombosis. (16055356)
2005
32
Polymorphisms associated with thrombophilia and vascular homeostasis and the timing of menarche and menopause in 728 white women. (15879922)
2005
33
Association of anticardiolipin antibody and C677T in methylenetetrahydrofolate reductase mutation in women with recurrent spontaneous abortions: a new path to thrombophilia? (15821810)
2005
34
Type I antithrombin deficiency as a cause of arterial and venous thrombosis in a family with severe thrombophilia]. (16304806)
2005
35
Factor V Leiden in young patients with thrombophilia. (15530287)
2004
36
Combination of thrombophilia markers in acute myocardial infarction of the young. (15470279)
2004
37
Definition of thrombophilia]. (15027578)
2003
38
Thrombophilia and stroke. (14681817)
2003
39
Congenital thrombophilia associated to obstetric complications. (12714837)
2002
40
Diagnosis of thrombophilia based on coagulation and genetic studies]. (14601477)
2002
41
Inherited thrombophilia: a possible cause of in utero vascular thrombosis in children with intestinal atresia. (11479844)
2001
42
Diagnosis of thrombophilia]]. (11446062)
2001
43
Heritability of elevated factor VIII antigen levels in factor V Leiden families with thrombophilia. (10886197)
2000
44
The prevalence of C677T mutation in the methylenetetrahydrofolate reductase gene and its association with venous thrombophilia in Taiwanese Chinese. (10680639)
2000
45
Heritable thrombophilia and hypofibrinolysis. Possible causes of retinal vein occlusion. (9930159)
1999
46
Genetic thrombophilia in patients with retinal vascular occlusion. (11456253)
1999
47
Inherited Thrombophilia due to Factor V Leiden Mutation. (10096958)
1998
48
Familial thrombophilia: clinical and molecular analysis of Swedish families with inherited resistance to activated protein C or protein S deficiency. (8981666)
1996
49
Thrombophilia: the new factor is old factor V. (7911865)
1994
50
High incidence of thrombophilia detected in Chinese patients with venous thrombosis. (8052955)
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
See all sources
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
See all sources

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

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