Thrombophilia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: THR015 MIFTS: 55	Thrombophilia Categories: Blood diseases, Cardiovascular diseases, Genetic diseases, Rare diseases, Respiratory diseases
Genes Variations Tissues Related diseases Publications Pathways Drugs Expand all tables

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Aliases & Classifications for Thrombophilia

MalaCards integrated aliases for Thrombophilia:

Name: Thrombophilia ¹² ⁵⁵ ³ ⁴⁴ ¹⁵ ⁴⁰ ⁷³

Hypercoagulability State ¹²

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Blood diseases Respiratory diseases Cardiovascular diseases

See all MalaCards categories (disease lists)

External Ids:

Disease Ontology ¹² DOID:2452

ICD10 ³³ D68.59

MeSH ⁴⁴ D019851

NCIt ⁵⁰ C84479

SNOMED-CT ⁶⁸ 76612001

UMLS ⁷³ C0398623

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Summaries for Thrombophilia

CDC : ³ Many people who have or have had family members with hemophilia will ask that their baby boys get tested soon after birth.

MalaCards based summary : Thrombophilia, also known as hypercoagulability state, is related to antithrombin iii deficiency and protein c deficiency. An important gene associated with Thrombophilia is F5 (Coagulation Factor V), and among its related pathways/superpathways are Response to elevated platelet cytosolic Ca2+ and Collagen chain trimerization. The drugs Heparin and Dalteparin have been mentioned in the context of this disorder. Affiliated tissues include testes, liver and placenta, and related phenotypes are cardiovascular system and homeostasis/metabolism

Wikipedia : ⁷⁶ Thrombophilia (sometimes hypercoagulability or a prothrombotic state) is an abnormality of blood... more...

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Related Diseases for Thrombophilia

Diseases in the Thrombophilia family:

Thrombophilia Due to Thrombin Defect	Thrombophilia Due to Activated Protein C Resistance
Thrombophilia, Familial, Due to Decreased Release of Tissue Plasminogen Activator	Thrombophilia Due to Thrombomodulin Defect
Prothrombin-Related Thrombophilia

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

(show top 50) (show all 323)

#	Related Disease	Score	Top Affiliating Genes
1	antithrombin iii deficiency	33.2	APOH F2 F5 MTHFR SERPINC1
2	protein c deficiency	32.7	F2 F5 F9 HRG MTHFR PROC
3	thrombophilia due to activated protein c resistance	32.2	APOH F2 F3 F5 F8 F9
4	thrombophilia due to thrombin defect	31.8	APOH F2 F3 F5 F8 MTHFR
5	budd-chiari syndrome	31.7	APOH F2 F3 F5 MTHFR SERPINC1
6	protein s deficiency	31.6	APOH F2 F3 F5 MTHFR PROS1
7	livedoid vasculitis	31.5	APOH F2 F8 MTHFR SERPINC1 SERPINE1
8	antiphospholipid syndrome	31.1	APOH F2 F3 F5 MTHFR SERPINC1
9	osteonecrosis	30.5	F2 MTHFR SERPINC1 SERPINE1
10	placenta disease	30.5	APOH F3 F5 MTHFR SERPINC1
11	eclampsia	30.3	F2 MTHFR SERPINC1 THBD
12	blood coagulation disease	30.3	F2 F3 F5 F8 F9 MTHFR
13	sticky platelet syndrome	30.2	F5 SERPINC1 SERPINE1
14	hemoglobin e disease	30.2	F2 F5
15	amaurosis fugax	30.1	F5 MTHFR SERPINE1
16	retinal vein occlusion	30.1	APOH F2 F5 MTHFR SERPINC1 SERPINE1
17	nonarteritic anterior ischemic optic neuropathy	30.0	F2 F5 MTHFR SERPINC1
18	cerebral palsy	30.0	F2 F5 MTHFR
19	homocystinuria	30.0	F5 MTHFR SERPINC1
20	patent foramen ovale	30.0	APOH F2 F5 MTHFR SERPINC1
21	legg-calve-perthes disease	30.0	APOH F5 SERPINC1 SERPINE1 THBD
22	severe pre-eclampsia	29.9	APOH F5 SERPINC1
23	retinal vascular occlusion	29.9	APOH F2 F5 MTHFR SERPINC1
24	central retinal vein occlusion	29.9	APOH F2 F5 MTHFR SERPINC1
25	portal vein thrombosis	29.9	APOH F2 F5 MTHFR SERPINC1 SERPINE1
26	ischemic optic neuropathy	29.9	APOH F2 F5 MTHFR SERPINC1
27	thrombocytosis	29.9	F2 F3 SERPINC1
28	lateral sinus thrombosis	29.9	F9 MTHFR
29	neonatal stroke	29.9	MTHFR PROC SERPINE1
30	post-thrombotic syndrome	29.8	F2 F5 F8 SERPINC1 SERPINE1
31	arteritic anterior ischemic optic neuropathy	29.8	F2 F5 MTHFR
32	coronary artery anomaly	29.8	F2 F5 SERPINE1
33	porencephaly	29.8	F2 F5 MTHFR
34	catastrophic antiphospholipid syndrome	29.8	APOH F3 F5 MTHFR PROC SERPINE1
35	hemolytic-uremic syndrome	29.8	F3 THBD VWF
36	endocarditis	29.8	APOH F2 SERPINC1
37	placental abruption	29.8	APOH F2 F5 MTHFR SERPINC1 THBD
38	cerebral sinovenous thrombosis	29.8	APOH F2 F3 F5 PROS1
39	dysfibrinogenemia	29.7	F2 F5 SERPINC1 SERPIND1 THBD
40	acute myocardial infarction	29.7	F3 SERPINC1 SERPINE1 VWF
41	varicose veins	29.7	F2 F5 MTHFR SERPINC1 VWF
42	infective endocarditis	29.7	APOH F2 SERPINE1
43	vasculitis	29.7	APOH THBD VWF
44	buerger disease	29.5	APOH F2 MTHFR SERPINE1
45	venous insufficiency	29.4	F2 SERPINE1 VWF
46	pulmonary embolism	29.4	APOH F2 F3 F5 F9 MTHFR
47	essential thrombocythemia	29.4	F2 F3 SERPINE1 THBD VWF
48	marantic endocarditis	29.4	F2 F3 MTHFR PROC SERPINC1 THBD
49	thrombotic thrombocytopenic purpura	29.4	APOH F3 THBD VWF
50	lemierre's syndrome	29.4	F11 F3 MTHFR SERPINE1

Graphical network of the top 20 diseases related to Thrombophilia:

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Symptoms & Phenotypes for Thrombophilia

MGI Mouse Phenotypes related to Thrombophilia:

⁴⁶

#	Description	MGI Source Accession	Score	Top Affiliating Genes
1	cardiovascular system	MP:0005385	10.27	F11 F2 F3 F5 F9 PROC
2	homeostasis/metabolism	MP:0005376	10.27	APOH F11 F2 F3 F5 F8
3	hematopoietic system	MP:0005397	10.22	F11 F2 F3 F8 F9 PROC
4	immune system	MP:0005387	10.06	F11 F2 F3 F8 F9 PROC
5	embryo	MP:0005380	10.03	F2 F3 F5 F9 PROCR PROS1
6	mortality/aging	MP:0010768	9.86	APOH F11 F2 F3 F5 F8
7	liver/biliary system	MP:0005370	9.81	F11 F5 F9 MTHFR PROC PROS1
8	integument	MP:0010771	9.8	F2 F3 F5 MTHFR PROS1 SERPINE1
9	nervous system	MP:0003631	9.32	F11 F2 F3 F5 MTHFR PROC

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Drugs & Therapeutics for Thrombophilia

Drugs for Thrombophilia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 254)

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

Heparin

Approved, Investigational

Phase 4,Phase 3,Not Applicable

9005-49-6

772 46507594

Dalteparin

Approved

Phase 4,Phase 3,Not Applicable

9005-49-6

Enoxaparin

Approved

Phase 4,Phase 3,Phase 2,Not Applicable

9005-49-6

772

Aspirin

Approved, Vet_approved

Phase 4,Phase 3,Not Applicable

50-78-2

2244

Iron

Approved

Phase 4

7439-89-6

23925

Rivaroxaban

Approved

Phase 4,Phase 3

366789-02-8

tannic acid

Approved

Phase 4,Phase 3

Benzocaine

Approved, Investigational

Phase 4,Phase 3

94-09-7, 1994-09-7

2337

Estradiol

Approved, Investigational, Vet_approved

Phase 4,Not Applicable

50-28-2

5757

Polyestradiol phosphate

Approved

Phase 4,Not Applicable

28014-46-2

Estradiol valerate

Approved, Investigational, Vet_approved

Phase 4,Not Applicable

979-32-8

Ethinyl Estradiol

Approved

Phase 4

57-63-6

5991

Megestrol acetate

Approved, Investigational, Vet_approved

Phase 4

595-33-5

11683

Serine

Approved, Nutraceutical

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

56-45-1

5951

Choline

Approved, Nutraceutical

Phase 4

62-49-7

305

Sarpogrelate

Investigational

Phase 4

125926-17-2

5160

Gestodene

Investigational

Phase 4

60282-87-3

3033968

calcium heparin

Phase 4,Phase 3,Not Applicable

Fibrinolytic Agents

Phase 4,Phase 3,Phase 2,Not Applicable

Heparin, Low-Molecular-Weight

Phase 4,Phase 3,Not Applicable

Anticoagulants

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

Micronutrients

Phase 4,Phase 3,Not Applicable

Trace Elements

Phase 4,Phase 3,Not Applicable

Calcium, Dietary

Phase 4,Phase 3,Not Applicable

Antibodies, Antiphospholipid

Phase 4,Phase 3,Not Applicable

Antithrombins

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

protease inhibitors

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

HIV Protease Inhibitors

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

Immunoglobulins

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Antithrombin III

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

Antibodies

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Immunologic Factors

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Factor Xa Inhibitors

Phase 4,Phase 2,Phase 3

Serine Proteinase Inhibitors

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable,Early Phase 1

Analgesics

Phase 4,Phase 3,Phase 2,Not Applicable

Platelet Aggregation Inhibitors

Phase 4,Phase 3,Phase 2,Not Applicable

Antirheumatic Agents

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Analgesics, Non-Narcotic

Phase 4,Phase 3,Not Applicable

Anti-Inflammatory Agents

Phase 4,Phase 3,Not Applicable

Peripheral Nervous System Agents

Phase 4,Phase 3,Phase 2,Not Applicable

Cyclooxygenase Inhibitors

Phase 4,Phase 3,Not Applicable

Anti-Inflammatory Agents, Non-Steroidal

Phase 4,Phase 3,Not Applicable

Antipyretics

Phase 4,Phase 3,Not Applicable

Factor VIII

Phase 4,Phase 1,Phase 2,Not Applicable

Coagulants

Phase 4,Phase 3,Phase 2,Phase 1,Not Applicable

Neurotransmitter Agents

Phase 4,Phase 3,Phase 2,Not Applicable

Contraceptive Agents

Phase 4,Not Applicable

Hormones

Phase 4,Phase 3,Phase 2,Not Applicable

Contraceptives, Oral

Phase 4

Iron Supplement

Phase 4

Interventional clinical trials:

(show top 50) (show all 264)

#	Name	Status	NCT ID	Phase	Drugs
1	Low Molecular Weight Heparin in Prevention of Recurrent Arteriovenous Graft Thrombosis in Chronic Hemodialysis Patients.	Unknown status	NCT01970280	Phase 4	Enoxaparin
2	Bovine Lactoferrin to Prevent and Cure Iron Deficiency and Iron Deficiency Anemia in Complicated Pregnancies	Completed	NCT01221844	Phase 4	FerroGrad by Abbott
3	The Effect of Heparin in Treatment IVF-ET Failure	Completed	NCT01214772	Phase 4	heparin
4	Efficacy and Safety of DLBS1033 in Subjects With Type 2 Diabetes Mellitus	Completed	NCT01865474	Phase 4	DLBS1033;placebo tablet of DLBS1033
5	Implantation Failure and PGD	Completed	NCT00547781	Phase 4
6	Coagulation Profile in Patients Undergoing Video Assisted Thorascopic Surgery (VATS) for Lung Cancer	Completed	NCT01741506	Phase 4	Dalteparin (Fragmin®)
7	Rivaroxaban for Antiphospholipid Antibody Syndrome	Completed	NCT02116036	Phase 4	Rivaroxaban
8	Citicoline Effect on Non-arteritic Anterior Ischemic Optic Neuropathy (NAION)	Completed	NCT03046693	Phase 4	Group A Citicoline 1000 mg oral tablet;Group B placebo oral tablet
9	Clinical Pharmacokinetics Study of ART-123 in Disseminated Intravascular Coagulation (DIC) Subjects With Renal Impairment	Completed	NCT01704001	Phase 4	ART-123
10	Diagnosis and Treatment Strategy of Recurrent Spontaneous Abortion Associated With Thrombophilla	Recruiting	NCT02986594	Phase 4	Aspirin;Heparin
11	Aspirin and Enoxaparin for VTE in Trauma	Recruiting	NCT02396732	Phase 4	Aspirin;Enoxaparin
12	A Study to Evaluate Efficacy of rFVIIIFc for Immune Tolerance Induction (ITI) in Severe Hemophilia A Participants With Inhibitors Undergoing the First ITI Treatment (verITI-8 Study)	Recruiting	NCT03093480	Phase 4
13	A Study to Evaluate the Effect of Sarpogrelate on Blood Hyperviscosity	Enrolling by invitation	NCT03509922	Phase 4	Anplag Tab. 100mg bid;Anplag Tab. 100mg tid
14	Response of Recombinant Antithrombin in Heparin Resistant Patients Undergoing Cardiac Surgery	Terminated	NCT01547728	Phase 4	Recombinant antithrombin (rhAT)
15	Comparison of Coagulation Profiles Between Zoely and Minidoz: RCT	Terminated	NCT03531437	Phase 4	1.5 mg estradiol and 2.5 mg nomegestrol acetate;15 µg ethinylestradiol and 60 µg gestodene
16	Atenativ Effect on Uterine Blood Flow and Preeclampsia	Withdrawn	NCT02278575	Phase 4	Atenativ
17	Prophylactic Plasma Infusion Therapy for Congenital Thrombotic Thrombocytopenic Purpura	Withdrawn	NCT01754545	Phase 4	Octaplas infusion and placebo (group 1);Octaplas infusion and placebo (group 2)
18	Heparin for Pregnant Women With Thrombophilia	Unknown status	NCT01019655	Phase 3	Nadroparin calcium
19	ThrombElastoGraphic Haemostatic Status and Antiplatelet Therapy After Coronary Artery Bypass Graft Surgery	Unknown status	NCT01046942	Phase 3	Clopidogrel+acetylsalicylic acid;acetylsalicylic acid
20	Effects of Different Doses of Ticagrelor on Platelet Aggregation and Endothelial Function in Diabetic Patients With Stable Coronary Artery Disease	Unknown status	NCT02889549	Phase 2, Phase 3	ticagrelor;clopidogrel
21	Safety and Efficacy of Low-Dose Ticagrelor in Chinese Patients With NSTE-ACS	Unknown status	NCT02415803	Phase 3	low-dose ticagrelor;conventional-dose ticagrelor;Clopidogrel
22	Effects of the Concentrated Extract of Soy on Coagulation Factors After Menopause	Unknown status	NCT00925639	Phase 3	Isoflavone;Placebo
23	D-Dimer Guided Oral Anticoagulant Treatment (OAT)	Unknown status	NCT00895505	Phase 3	Phenprocoumon;Warfarin-Natrium
24	Efficacy and Safety of Unfractionated Heparin on Severe Sepsis With Suspected Disseminated Intravascular Coagulation	Unknown status	NCT02654561	Phase 3	Heparin Sodium;Saline
25	TIPPS: Thrombophilia in Pregnancy Prophylaxis Study	Completed	NCT00967382	Phase 3	dalteparin sodium
26	Low Weight Heparin prOphylaxis for Placental‐Mediated Complications of PrEgnancy	Completed	NCT01388322	Phase 3	Enoxaparin
27	Low Molecular Weight Heparin and/or Aspirin in Prevention of Habitual Abortion	Completed	NCT00959621	Phase 3	Aspirin;Klexane;Klexane and ASA
28	Vitamins C and Vitamin E and Cardiovascular Risk	Completed	NCT00362518	Phase 3
29	An Open-label Study of KW-3357	Completed	NCT01384903	Phase 3	KW-3357;Plasma-derived antithrombin
30	A Clinical Study of KW-3357 in Patients With DIC	Completed	NCT01384396	Phase 3	KW-3357
31	Prevention of Maternal and Perinatal Complications by Enoxaparin in Women With Previous Severe Preeclampsia	Completed	NCT00986765	Phase 3	Lovenox® (enoxaparin);Aspegic ® (Aspirin)
32	Study of Recombinant Factor IX Product, IB1001, in Previously Treated Pediatric Subjects With Hemophilia B	Completed	NCT01271868	Phase 3	Recombinant factor IX Product, IB1001
33	N-Acetylcysteine in Patients With Sickle Cell Disease	Completed	NCT01849016	Phase 3	N-Acetylcysteine;Placebo
34	Efficacy and Safety Study of Protein C Concentrate in Subjects With Severe Congenital Protein C Deficiency	Completed	NCT00157118	Phase 2, Phase 3	Protein C Concentrate (Human) Vapor Heated
35	Recombinant Human Antithrombin (rhAT) in Patients With Hereditary Antithrombin Deficiency Undergoing Surgery or Delivery	Completed	NCT00110513	Phase 3
36	Study of Recombinant Factor IX Product, IB1001, in Subjects With Hemophilia B	Completed	NCT00768287	Phase 2, Phase 3
37	Phase III Trial With Caplacizumab in Patients With Acquired Thrombotic Thrombocytopenic Purpura	Completed	NCT02553317	Phase 3
38	Study of Cyclosporine or Corticosteroids as an Adjunct to Plasma Exchange in Thrombotic Thrombocytopenic Purpura (TTP)	Completed	NCT00713193	Phase 3	Cyclosporine;Prednisone
39	Assess Incidence of Deep Vein Thrombosis(DVT)Following Administration of Recombinant Human Antithrombin (rhAT) to Hereditary Antithrombin(AT) Deficient Patients in High Risk Situations.	Completed	NCT00056550	Phase 3
40	Hydroxychloroquine for Prevention of Recurrent Miscarriage.	Recruiting	NCT03165136	Phase 3	Hydroxychloroquine;Placebo
41	Edoxaban for the Treatment of Coagulopathy in Patients With Active Cancer and Acute Ischemic Stroke: a Pilot Study. (ENCHASE Study)	Recruiting	NCT03570281	Phase 2, Phase 3	Edoxaban;Enoxaparin
42	Esomeprazole for the Prevention of Preeclampsia	Recruiting	NCT03717740	Phase 3	Esomeprazole;Placebo
43	HOPE-B: Trial of AMT-061 in Severe or Moderately Severe Hemophilia B Patients	Recruiting	NCT03569891	Phase 3
44	Xarelto Versus no Treatment for the Prevention of Recurrent Thrombosis in Patients With Chronic Portal Vein Thrombosis.	Active, not recruiting	NCT02555111	Phase 3	Xarelto
45	Safety, Pharmacokinetics and Efficacy of an AT-III Concentrate.	Active, not recruiting	NCT00319228	Phase 2, Phase 3	Plasma-derived AT-III concentrate
46	A Phase 3, Randomized, Controlled Study of Prophylactic and On-demand Treatment of cTTP With BAX 930 (rADAMTS13)	Active, not recruiting	NCT03393975	Phase 3
47	Follow-up Study for Patients Who Completed Study ALX0681-C301 (Post-HERCULES)	Active, not recruiting	NCT02878603	Phase 3
48	Magnesium Sulfate in Thrombotic Thrombocytopenic Purpura in Intensive Care	Not yet recruiting	NCT03237819	Phase 3	Sulfate, Magnesium;Placebo - Concentrate
49	Prevention of Unexplained Recurrent Abortion by Enoxaparine	Terminated	NCT00740545	Phase 3	enoxaparine 40 mg daily;placebo
50	Weight Adjusted Low Molecular Weight Heparin in Recurrent Implantation Failure: a Randomized Open Labeled Trial	Terminated	NCT02991950	Phase 3	Parnaparin Sodium

Search NIH Clinical Center for Thrombophilia

Cochrane evidence based reviews: thrombophilia

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Genetic Tests for Thrombophilia

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Anatomical Context for Thrombophilia

MalaCards organs/tissues related to Thrombophilia:

⁴¹

Testes, Liver, Placenta, Endothelial, Heart, Kidney, Thyroid

Sources

Publications for Thrombophilia

Articles related to Thrombophilia:

(show top 50) (show all 1342)

#	Title	Authors	Year
1	Blocking Properdin Prevents Complement-Mediated Hemolytic Uremic Syndrome and Systemic Thrombophilia. ( 29858280 )	Ueda Y....Song W.C.	2018
2	Association between thrombophilia gene polymorphisms and recurrent pregnancy loss risk in the Iranian population. ( 29658346 )	Bigdeli R....Aligoudarzi S.L.	2018
3	Congenital Thrombophilia in Patients With Superior Mesenteric Venous Thrombosis or Portal Vein Thrombosis. ( 29747524 )	Makoto I....Isaji S.	2018
4	Conservative management of neonatal cerebral sinovenous thrombosis with coexisting thrombophilia. ( 29708897 )	Khatri V....Bhatt M.	2018
5	Can thrombophilia predict recurrent catheter-related deep vein thrombosis in children? ( 29724900 )	Avila M.L....BrandALo L.R.	2018
6	Direct oral anticoagulant use in patients with thrombophilia, antiphospholipid syndrome or venous thrombosis of unusual sites: A narrative review. ( 29402471 )	Bertoletti L....Delluc A.	2018
7	Mesoaortic compression of a left-sided inferior vena-cava presenting as recurrent pulmonary embolism in a child-a novel anatomic thrombophilia? ( 29350462 )	Wedekind M.F....Kumar R.	2018
8	Strengthening the Case for the Role of Thrombophilia in Calciphylaxis. ( 29955798 )	Dobry A.S....Kroshinsky D.	2018
9	Strengthening the Case for the Role of Thrombophilia in Calciphylaxis. ( 29955772 )	Hickson L.J....el-Azhary R.A.	2018
10	Inherited Thrombophilia and Pregnancy Complications: Should We Test? ( 29864774 )	Arachchillage D.R.J....Makris M.	2018
11	Do hospital doctors test for thrombophilia in patients with venous thromboembolism? ( 29922879 )	Samim D....MAcan M.	2018
12	Role of thrombophilia in splanchnic venous thrombosis in acute pancreatitis. ( 29720864 )	Ahmed S.U....Kang M.	2018
13	Maternal Thrombophilia and Recurrent Miscarriage - Is There Evidence That Heparin is Indicated as Prophylaxis against Recurrence? ( 29576632 )	Stefanski A.L....DAPrner T.	2018
14	Thrombophilia-Associated Factors in Patients with Spontaneous Osteonecrosis of the Knee. ( 29308659 )	Marom N....Hetsroni I.	2018
15	Myocardial infarction and thrombophilia: Do not miss the right diagnosis! ( 29254740 )	Hubert A....Bedossa M.	2018
16	The association between otogenic lateral sinus thrombosis and thrombophilia - A long-term follow-up. ( 29530427 )	Schneider S....Kaplan D.M.	2018
17	High-Mobility Group Box 1 From Hypoxic Trophoblasts Promotes Endothelial Microparticle Production and Thrombophilia in Preeclampsia. ( 29650693 )	Hu Y....Wu Q.	2018
18	Thrombophilia and Recurrent Pregnancy Loss: The Enigma Continues. ( 29932168 )	Barut M.U....A8oksA1er H.	2018
19	Frequency and characteristics associated with inherited thrombophilia in patients with intracranial dural arteriovenous fistula. ( 29624150 )	LaHue S.C....Singh V.	2018
20	Hereditary thrombophilia in trauma patients with venous thromboembolism: Is routine screening necessary? ( 29194315 )	Cannon K.A....Shackford S.R.	2018
21	Gastrointestinal: Duodenal variceal bleeding secondary to thrombophilia-related portal vein thrombosis. ( 29372608 )	Mullish B.H....Dhar A.	2018
22	The authors respond to &quot;Thrombophilia testing in venous thromboembolism&quot;. ( 29440340 )	Khan F....Rodger M.A.	2018
23	Detection of high-risk thrombophilia with an automated, global test: the Coagulation Inhibitor Potential assay. ( 29782332 )	RAcger B....TA^th O.	2018
24	Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia. ( 29374276 )		2018
25	Inpatient thrombophilia testing: Impact of healthcare system technology and targeted clinician education on changing practice patterns. ( 29153040 )		2018
26	Correction: Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia. ( 29980747 )		2018
27	Thromboprophylaxis in pregnant women with thrombophilia and a history of thrombosis. ( 29949514 )		2018
28	Neonatal Arterial Ischemic Stroke: Risk Related to Family History, Maternal Diseases, and Genetic Thrombophilia. ( 29108421 )		2018
29	Effects of multiple inherited and acquired thrombophilia on outcomes of in-vitro fertilization. ( 29772490 )		2018
30	Thrombophilia testing in venous thromboembolism. ( 29440339 )		2018
31	Activated Factor X-Based versus Thrombin-Based Antithrombin Testing in Thrombophilia Workup in the DOAC Era. ( 29378360 )		2018
32	A Giant Right Heart Thrombus-in-Transit: The Challenge of Anticoagulation in Factor V Leiden Thrombophilia. ( 30363672 )	Chu A...Leslie J	2018
33	Primary Hyperoxaluria Type 1 with Thrombophilia in Pregnancy: A Case Report. ( 30397603 )	Hasan A...Schairer H	2018
34	INCREASED SYSTEMIC HEPARANASE IN RETINAL VEIN OCCLUSION IS ASSOCIATED WITH ACTIVATION OF INFLAMMATION AND THROMBOPHILIA. ( 30383717 )	Hu Y...Yuan L	2018
35	Superficial vein thrombosis in non-varicose veins of the lower limbs and thrombophilia. ( 28134019 )	Lucchi G...Lucchi M	2018
36	Outcomes in an obstetrical population with hereditary thrombophilia and high tobacco use. ( 28367651 )	Calhoun B...Bracero LA	2018
37	Thrombophilia in 153 Patients With Premature Cardiovascular Disease ≤Age 45. ( 28401801 )	Milgrom A...Glueck CJ	2018
38	Thrombophilia testing in children: What and when should be tested? ( 29518638 )	Nowak-G?ttl U...Kenet G	2018
39	Can thrombophilia worsen maternal and perinatal outcomes in cases of severe preeclampsia? ( 29523280 )	Baptista FS...Francisco RPV	2018
40	Inherited thrombophilia and pregnancy loss. Study of an Argentinian cohort. ( 29523337 )	Per?s Wingeyer S...de Larra?aga G	2018
41	Obesity, sedentary lifestyle, and video games: The new thrombophilia cocktail in adolescents. ( 29528184 )	Kohorst MA...Rodriguez V	2018
42	Amputees at High Altitude: The Potentially Sticky Issue of Thrombophilia. ( 29717894 )	Stacey BS...Bailey DM	2018
43	Should we screen hereditary thrombophilia testing in patients with provoked/unprovoked venous thromboembolism? ( 30017526 )	Ulas T...Dal MS	2018
44	The pathogenesis and available prevention options in patients with diabetic thrombophilia. ( 30062868 )	Kwiatkowski J...Kuliszkiewicz-Janus M	2018
45	Thrombophilia Associated with Early Post-angioplasty Thrombosis of Dialysis Vascular Access. ( 30066093 )	Chen TY...Wu CC	2018
46	Thrombophilia Caused by Beta2-Glycoprotein I Deficiency: In Vitro Study of a Rare Mutation in APOH Gene. ( 30074200 )	Zhang XP...Hu Y	2018
47	Comment on "Do hospital doctors test for thrombophilia in patients with venous thromboembolism?" ( 30101401 )	Ulas T	2018
48	An Audit of Thrombophilia Testing in Patients with Ischemic Stroke or Transient Ischemic Attack: The Futility of Testing. ( 30143267 )	Gavva C...Sarode R	2018
49	More valid and reliable thrombophilia testing is required for predicting the recurrence and the required duration of treatment for venous thromboembolism. ( 30187196 )	Iltar U	2018
50	An Electronic Best Practice Alert Based on Choosing Wisely Guidelines Reduces Thrombophilia Testing in the Outpatient Setting. ( 30215176 )	Jun T...Hom J	2018

Sources

Genes for Thrombophilia

Genes related to Thrombophilia (0 elite genes):

(show all 17)

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	F5	Coagulation Factor V	Protein Coding	69.71	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	9820002 9350176 9577282 (more) 16256098 9238178 11556214 11998221 8970058 9798968 9785636 9156566 19610561 10477778 9046944 7590506 7986734 17700999 15726653 10726047 9376729 9173574 7902898 15309526 12865809 12643329 14601477 11821094 11733740 8966383 17635646 9841693 15706479 12402989 10980068 9635631 8552534 18160589 16026277 9817680 9312365 8734702 18154667 17602387 15461212 15066453 10755093 10378363 8841318 16093732 7839630 7485105 7578527 9245936 9607123 9763351 9875108 10071347 11242801 10997790 10941343 10886197 10767687 10739378 10638581 10492912 10414227 16987688 16607693 16565527 16556168 16496494 16466010 16359589 15919499 15210401 7911865 19786941 19070828 18791446 18685442 18619081 18404788 17574520 18333414 10667107 10556190 9776464 9715525 9577320 9531346 9383024 9075684 8979136 15706484 15678277 15691154 15530287 15272901 15199492
2	HRG	Histidine Rich Glycoprotein	Protein Coding	66.54	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Gene name Summaries Variants (show sections)	8475479 9575605 10650845 (more) 14517486 19878090 8165641
3	PROC	Protein C, Inactivator Of Coagulation Factors Va And VIIIa	Protein Coding	63.26	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	11998221 12632031
4	THBD	Thrombomodulin	Protein Coding	62.74	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	9198186 7822946 10102456 (more) 11020468 15305435 8522567 9575605 15771687 18690343 9840687 19914688 11734675 10625205 10938925 15099295 10077454 15389121 19365521 1336789 11053612 16052406 8156121
5	F2	Coagulation Factor II, Thrombin	Protein Coding	58.29	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	9219324 16256098 8171409 (more) 9238178 9681209 10544904 10739378 11998221 15210401 16466010 16607693 1542837 9846471 10477778 10894919 14642003 15678507 15813553 16305681 17275807 18501222 19793098 20299779 8241985 9594618 10775022 15247931 15333035 15726653 17454173 17700999 19365521 19303627 10741896 10775030 14747183 14531916 12915983 12857558 11320544 10755093 10365747 9531043 9299960 11380448 11114134 10377833 9465693 19461414 18160589 16171147 14506554 12714837 19293440 19145820 16514238 15706469 11434686 10629667 8511904 20118812 19568454 19253736 17032424 16549895 16689762 11053612 12201956 16052406 16138341 16210966 18053365 17436016 18979429 18840629 12551828 10530716 10759281 11151062 11943933 17401546 19005247 8477086
6	PROS1	Protein S	Protein Coding	56.75	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	9657428
7	F9	Coagulation Factor IX	Protein Coding	49.32	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	7974341 16839351 18028421 (more) 12172465 15692250 19454584 2189489 14521595 19579050
8	SERPINC1	Serpin Family C Member 1	Protein Coding	48.84	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications (show sections)	10625206 9630308 17107615 (more) 18760065 2189489 8843809 15461212 12849904 12421140 7839322 7855783 9644643 9929104 11486107 11686317 11796466 15210401 7718768 8003387 1542837 19087853 18685442 17915061 16962918 16607693 15919499 8733245 7888369 8429723 1920554 17183972 16038714 15706484 12601491 12676193 18388503 17450038 16498372 16392896 16330983 16109904 16154434 15470279 15247931 15266932 12680634 12368598 12201956 11532625 10961579 10650845 9607113 9409444 12244296 11872195 10804357 10443959 10652759 10650854 9350176 9306585 8966383 16240880 15500369 15309526 15027578 8815842 12551828 19117968 19902870 18927445 18053365 17557562 15708174 8721833 8342458 1485283 20232702 19707467 18766260 18394759 18395945 14624217 12172465 11506257 9746774 9396341 9271815 9241707 8967151 11570053 11372765 10510546 10084210 10667107 10556190 9491162 9296019 12907439
9	SERPIND1	Serpin Family D Member 1	Protein Coding	47.41	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Variants (show sections)	10650845
10	SERPINE1	Serpin Family E Member 1	Protein Coding	44.02	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications Summaries (show sections)	14653439 11525850 8003387 (more) 8522567 15333035 7780225 14552191 16100033 12421149 16448990 14992014 9569196 20118812 11912556 9219324 19290852 17581312 17473572 15678268 8735135 10852608 16052406 11053612 19507653 19132219 19043371 8548430
11	MTHFR	Methylenetetrahydrofolate Reductase	Protein Coding	37.6	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	14691342 14747183 15834246 (more) 9890294 18191809 14642003 16305681 18792762 15333035 19507653 11385320 12637218 10804357 10411807 9493571 18979429 18053365 16450127 16052406 12368598 15625161 15009459 12714837 12170465 20118812 19937485 19568454 17043779 17032424 16514238 15678268 11755551 19461414 18796459 18803625 16683219 15821810 10365747 19591378 19131586 18160591 16791607 16055356 12712097 10706928 19365521 14624217 17275807 15813553 11943942 10739378
12	F3	Coagulation Factor III, Tissue Factor	Protein Coding	36.59	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	12028043 16479463 15617024 (more) 7479207 10896233 1542837 8873345 10404760 12574804 12941039 11798557 17166244 18292391 8241985 15247931 18840579 20483743 11372724 11685044 12201956 16570355 16194410 15706469 15494427 7636898 17253197 14506554 12538178 8180338 19285274 19874310 19460118 18673345 17629773 18720304 10725976 7669667 19290852 18827061 15099295 10830219 18443332 12669120 12695751 16241948
13	APOH	Apolipoprotein H	Protein Coding	35.11	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	8621985 11697706 11843372 (more) 15919499 16987688 18191809 18791446 9101497 9930159 12601491 17918782 18320531 19223137 8329074 9594618 9814666 10631197 16154434 15293102 9531591 9465693 1956552 19048829 18285537 16246971 11224691 8489120 19293440 18845284 17106824 15921544 18066962 15821810 15338141 15066453 10920112 8841318 16109904 20064910 12368598 12793493 15266932 18053365 19902870 16055356 17473572
14	VWF	Von Willebrand Factor	Protein Coding	33.24	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	11877023 12551825 17059421 (more) 15771687 17393014 18625524 15735796 11518853 17869046 11053612 12201956 9184386 12624629 10650869
15	F8	Coagulation Factor VIII	Protein Coding	33.12	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	18304616 18766260 15735796 (more) 17059421 18927445 11322838 18160613 17209060 8329566 19579050 15304037 14521595 11214218 10064011 11736955 9184386 14635611 17393014
16	PROCR	Protein C Receptor	Protein Coding	31.83	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	18685442 17849044 19365521 (more) 16052406 11776299 19293440
17	F11	Coagulation Factor XI	Protein Coding	30.98	DISEASES inferred ¹⁵ Novoseek inferred ⁵⁵ GeneCards inferred via : Publications (show sections)	15692250 14521595

Sources

Variations for Thrombophilia

Copy number variations for Thrombophilia from CNVD:

⁷

#	CNVD ID	Chromosom	Start	End	Type	Gene Symbol	CNVD Disease
1	151514	20	22300000	25600000	Loss	THBD	Thrombophilia

Sources

Expression for Thrombophilia

Search GEO for disease gene expression data for Thrombophilia.

Sources

Pathways for Thrombophilia

Pathways related to Thrombophilia according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Response to elevated platelet cytosolic Ca2+ ⁶⁶ Show member pathways Disinhibition of SNARE formation ⁶⁶ Hemostasis ⁶⁶ Platelet activation, signaling and aggregation ⁶⁶ Platelet degranulation ⁶⁶	13.14	APOH F11 F2 F3 F5 F8
2	Collagen chain trimerization ⁶⁶ Show member pathways Anchoring fibril formation ⁶⁶ Assembly of collagen fibrils and other multimeric structures ⁶⁶ Blood Coagulation Cascade ⁶⁴ Collagen biosynthesis and modifying enzymes ⁶⁶ Collagen formation ⁶⁶ Crosslinking of collagen fibrils ⁶⁶ Intrinsic Prothrombin Activation Pathway ⁶⁴ Protein digestion and absorption ³⁷	12.68	F11 F2 F3 F5 F8 F9
3	Cell surface interactions at the vascular wall ⁶⁶ Show member pathways Fibronectin matrix formation ⁶⁶ PECAM1 interactions ⁶⁶ Tie2 Signaling ⁶⁶	12.02	F2 PROC PROCR PROS1 THBD
4	Complement and coagulation cascades ¹ ³⁷	11.94	F11 F2 F3 F5 F8 F9
5	Gamma carboxylation, hypusine formation and arylsulfatase activation ⁶⁶ Show member pathways diphthamide biosynthesis ¹ Gamma-carboxylation of protein precursors ⁶⁶ Gamma-carboxylation, transport, and amino-terminal cleavage of proteins ⁶⁶ hypusine biosynthesis ¹ Hypusine synthesis from eIF5A-lysine ⁶⁶ Removal of aminoterminal propeptides from gamma-carboxylated proteins ⁶⁶ Synthesis of diphthamide-EEF2 ⁶⁶ The activation of arylsulfatases ⁶⁶ Transport of gamma-carboxylated protein precursors from the endoplasmic reticulum to the Golgi apparatus ⁶⁶	11.74	F2 F9 PROC PROS1
6	Formation of Fibrin Clot (Clotting Cascade) ⁶⁶ Show member pathways Blood Clotting Cascade ¹ Blood Coagulation Signaling Pathways ⁶⁵ Common Pathway of Fibrin Clot Formation ⁶⁶ Extrinsic Pathway of Fibrin Clot Formation ⁶⁶ Extrinsic Prothrombin Activation Pathway ⁶⁴ Intrinsic Pathway of Fibrin Clot Formation ⁶⁶	11.67	F11 F2 F3 F5 F8 F9
7	AGE-RAGE signaling pathway in diabetic complications ³⁷	11.63	F3 SERPINE1 THBD
8	Warfarin Pathway, Pharmacodynamics ⁶¹	10.8	F2 F9 PROC PROS1
9	Dissolution of Fibrin Clot ⁶⁶	10.55	HRG SERPINE1

Sources

GO Terms for Thrombophilia

Cellular components related to Thrombophilia according to GeneCards Suite gene sharing:

(show all 11)

#	Name	GO ID	Score	Top Affiliating Genes
1	cell surface	GO:0009986	9.88	APOH F3 HRG PROCR THBD
2	collagen-containing extracellular matrix	GO:0062023	9.85	APOH F3 HRG SERPINC1 SERPINE1 VWF
3	endoplasmic reticulum lumen	GO:0005788	9.8	F2 F5 F8 F9 PROC SERPINC1
4	extracellular space	GO:0005615	9.8	APOH F11 F2 F3 F5 F8
5	blood microparticle	GO:0072562	9.73	F2 HRG PROS1 SERPINC1
6	Golgi lumen	GO:0005796	9.71	F2 F9 PROC PROS1
7	platelet alpha granule lumen	GO:0031093	9.63	F5 F8 HRG PROS1 SERPINE1 VWF
8	extracellular region	GO:0005576	9.5	APOH F11 F2 F3 F5 F8
9	platelet alpha granule	GO:0031091	9.49	F5 VWF
10	plasma membrane	GO:0005886	10.23	F11 F2 F3 F5 F8 F9
11	extracellular exosome	GO:0070062	10.06	APOH F11 F2 F9 HRG PROCR

Biological processes related to Thrombophilia according to GeneCards Suite gene sharing:

(show all 19)

#	Name	GO ID	Score	Top Affiliating Genes
1	platelet degranulation	GO:0002576	9.95	APOH F5 F8 HRG PROS1 SERPINE1
2	ER to Golgi vesicle-mediated transport	GO:0006888	9.93	F2 F5 F8 F9 PROC PROS1
3	cellular protein metabolic process	GO:0044267	9.91	F2 F5 PROC SERPINC1 SERPIND1
4	post-translational protein modification	GO:0043687	9.88	F5 PROC SERPINC1 SERPIND1
5	negative regulation of endopeptidase activity	GO:0010951	9.88	HRG PROS1 SERPINC1 SERPIND1 SERPINE1
6	platelet activation	GO:0030168	9.83	F2 F8 HRG VWF
7	blood coagulation	GO:0007596	9.8	F11 F2 F3 F5 F8 F9
8	negative regulation of blood coagulation	GO:0030195	9.77	APOH PROC PROS1 SERPINE1 THBD
9	negative regulation of peptidase activity	GO:0010466	9.76	SERPINC1 SERPIND1 SERPINE1
10	fibrinolysis	GO:0042730	9.73	F2 HRG PROS1 SERPINE1
11	regulation of blood coagulation	GO:0030193	9.72	APOH F11 F2 HRG SERPINC1
12	positive regulation of blood coagulation	GO:0030194	9.67	APOH F2 SERPINE1
13	negative regulation of fibrinolysis	GO:0051918	9.65	APOH F2 HRG SERPINE1 THBD
14	blood coagulation, intrinsic pathway	GO:0007597	9.63	APOH F11 F2 F8 F9 VWF
15	plasminogen activation	GO:0031639	9.57	APOH F11
16	negative regulation of cell adhesion mediated by integrin	GO:0033629	9.56	HRG SERPINE1
17	negative regulation of platelet activation	GO:0010544	9.55	F2 THBD
18	negative regulation of coagulation	GO:0050819	9.54	PROC PROCR
19	hemostasis	GO:0007599	9.47	F11 F2 F3 F5 F8 F9

Molecular functions related to Thrombophilia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	calcium ion binding	GO:0005509	9.83	F2 F9 PROC PROS1 THBD
2	serine-type peptidase activity	GO:0008236	9.67	F11 F2 F9 PROC
3	serine-type endopeptidase activity	GO:0004252	9.65	F11 F2 F3 F9 PROC
4	peptidase inhibitor activity	GO:0030414	9.58	SERPINC1 SERPIND1 SERPINE1
5	protease binding	GO:0002020	9.46	F3 SERPINC1 SERPINE1 VWF
6	immunoglobulin binding	GO:0019865	9.32	HRG VWF
7	serine-type endopeptidase inhibitor activity	GO:0004867	9.26	HRG SERPINC1 SERPIND1 SERPINE1
8	heparin binding	GO:0008201	9.1	APOH F11 F2 HRG SERPINC1 SERPIND1

Sources

Sources for Thrombophilia

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia