THPH1
MCID: THR092
MIFTS: 76

Thrombophilia Due to Thrombin Defect (THPH1)

Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Genetic diseases, Immune diseases, Rare diseases, Respiratory diseases
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Aliases & Classifications for Thrombophilia Due to Thrombin Defect

MalaCards integrated aliases for Thrombophilia Due to Thrombin Defect:

Name: Thrombophilia Due to Thrombin Defect 57 11 73 28 5 14
Venous Thromboembolism 57 73 5 16 71 33
Venous Thrombosis 57 73 28 53 71 75
Thrombophilia Due to Factor 2 Defect 57 11 19 73
Thromboembolism 57 53 5 71
Venous Thromboembolism, Susceptibility to 57 28 5
Thromboembolism, Susceptibility to 57 28 12
Thph1 57 11 73
Venous Thrombosis, Protection Against 57 5
Venous Thrombosis, Susceptibility to 28 5
Prothrombin-Related Thrombophilia 11 19
Hyperprothrombinemia 19 71
Thrombophilia 1 Due to Thrombin Defect 57
Prothrombin 20210g>a Thrombophilia 19
Prothrombin G20210a Thrombophilia 19
Factor Ii-Related Thrombophilia 19
Prothrombin Thrombophilia 19
F2-Related Thrombophilia 19

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
onset in childhood


Classifications:



External Ids:

Disease Ontology 11 DOID:0111907
OMIM® 57 188050
OMIM Phenotypic Series 57 PS188050
MeSH 43 D019851
ICD11 33 1197943614
UMLS 71 C0040038 C0042487 C1861172 more

Summaries for Thrombophilia Due to Thrombin Defect

GARD: 19 Prothrombin-related thrombophilia affects the way the blood clots. Individuals who have a thrombophilia have an increased risk to form abnormal blood clots in blood vessels. Symptoms of Prothrombin-related thrombophilia include a higher than average risk to develop blood clots in the deep veins of the legs (deep venous thrombosis) and blood clots in the lungs (pulmonary embolism). Many people with Prothrombin-related thrombophilia never develop abnormal blood clots. This condition is caused by a particular genetic variant (written G20210A or 20210G>A) in the F2 gene and is inherited in an autosomal dominant pattern. Prothrombin-related thrombophilia is diagnosed based on the symptoms, physical exam, blood tests, and imaging studies. The diagnosis may be confirmed by the results of genetic testing.

MalaCards based summary: Thrombophilia Due to Thrombin Defect, also known as venous thromboembolism, is related to homocysteinemia and cerebral sinovenous thrombosis. An important gene associated with Thrombophilia Due to Thrombin Defect is F13A1 (Coagulation Factor XIII A Chain), and among its related pathways/superpathways are Collagen chain trimerization and Response to elevated platelet cytosolic Ca2+. The drugs Dronedarone and Atorvastatin have been mentioned in the context of this disorder. Affiliated tissues include lung, spinal cord and liver, and related phenotypes are pulmonary embolism and deep venous thrombosis

OMIM®: 57 Thrombophilia is a multifactorial disorder of inappropriate clot formation resulting from an interaction of genetic, acquired, and circumstantial predisposing factors. Venous thromboembolism most commonly manifests as deep vein thrombosis, which may progress to pulmonary embolism if the clot dislodges and travels to the lung. Other manifestations include thromboses of the cerebral or visceral veins and recurrent pregnancy loss (summary by Seligsohn and Lubetsky, 2001 and Varga and Kujovich, 2012). (188050) (Updated 08-Dec-2022)

UniProtKB/Swiss-Prot: 73 A multifactorial disorder of hemostasis characterized by abnormal platelet aggregation in response to various agents and recurrent thrombi formation.

Disease Ontology: 11 A thrombophilia characterized by recurrent thrombophilia that has material basis in heterozygous mutation in F2 on chromosome 11p11.2.

Wikipedia: 75 Venous thrombosis is blockage of a vein caused by a thrombus (blood clot). A common form of venous... more...

Related Diseases for Thrombophilia Due to Thrombin Defect

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
Thrombophilia Due to Decreased Release of Plat Rare Hereditary Thrombophilia

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

(show top 50) (show all 1733)
# Related Disease Score Top Affiliating Genes
1 homocysteinemia 32.2 MTHFR F5 F2
2 cerebral sinovenous thrombosis 31.5 F5 F2
3 antithrombin iii deficiency 31.4 SERPINC1 PF4 MTHFR FGA F5 F3
4 vitamin k deficiency bleeding 31.4 SERPINC1 F8 F3 F2
5 intracranial hypertension 31.3 SERPINC1 F5 F3 F2 APOH
6 polycythemia 31.3 F5 F3 F2
7 papilledema 31.2 SERPINC1 F3 F2 APOH
8 heparin-induced thrombocytopenia 31.2 PF4 F3 F2
9 protein c deficiency 31.1 THBD SERPINE1 SERPINC1 PROCR PROC MTHFR
10 hyperhomocysteinemia 31.1 VWF THBD SERPINE1 SERPINC1 PLAT MTHFR
11 intracranial hypotension 31.1 SERPINC1 MTHFR F3 F2
12 portal vein thrombosis 31.0 VWF THBD SERPINC1 PF4 MTHFR F8
13 post-thrombotic syndrome 31.0 VWF THBD SERPINE1 SERPINC1 PLAT F8
14 hemoglobinuria 31.0 THBD SERPINC1 F2
15 hemophilia 31.0 VWF F8 F2 F10
16 venous insufficiency 30.9 VWF SERPINE1 PLAT MTHFR F5 F2
17 severe covid-19 30.9 VWF F3 F2
18 lateral sinus thrombosis 30.9 SERPINC1 MTHFR F2
19 factor viii deficiency 30.9 VWF SERPINC1 F8 F5 F3 F2
20 protein s deficiency 30.9 THBD SERPINE1 SERPINC1 PROC MTHFR FGA
21 chronic venous insufficiency 30.9 VWF SERPINE1 SERPINC1 F3 F2
22 mastoiditis 30.9 SERPINC1 MTHFR F3 F2
23 thoracic outlet syndrome 30.9 SERPINC1 PLAT F2 APOH
24 cerebrovascular disease 30.9 PLAT MTHFR F5 F2 F13A1 APOH
25 compartment syndrome 30.8 SERPINC1 F8 F3 F2
26 esophageal varix 30.8 SERPINC1 F3 F2
27 varicose veins 30.8 VWF THBD SERPINC1 PLAT MTHFR F5
28 thrombophilia due to activated protein c resistance 30.8 VWF THBD SERPINE1 SERPINC1 MTHFR F8
29 sickle cell anemia 30.7 VWF SERPINC1 F3 F2
30 lemierre's syndrome 30.7 SERPINC1 F3 F2
31 thrombocytopenia due to platelet alloimmunization 30.7 VWF PF4 F3
32 abducens palsy 30.7 SERPINC1 F2
33 limb ischemia 30.6 VWF SERPINC1 F3
34 behcet syndrome 30.6 VWF THBD SERPINC1 MTHFR F5 F3
35 arteriovenous malformation 30.6 VWF PLAT F3 F2
36 splenic infarction 30.6 SERPINC1 F3 F2 APOH
37 homocystinuria 30.6 THBD SERPINC1 MTHFR F8 F5
38 factor xii deficiency 30.6 VWF SERPINC1 F5 F3 F2 APOH
39 budd-chiari syndrome 30.6 VWF SERPINC1 MTHFR F5 F3 F2
40 thrombocytopenic purpura, autoimmune 30.6 PF4 F8 F3 F2
41 pregnancy loss, recurrent 1 30.6 MTHFR F5 APOH
42 cardiovascular system disease 30.5 VWF THBD SERPINE1 SERPINC1 PLAT PF4
43 sagittal sinus thrombosis 30.5 SERPINC1 PF4 MTHFR F5 F3 F2
44 cavernous sinus thrombosis 30.5 SERPINC1 PF4 F3 F2
45 hemophilia a 30.5 VWF F8 F5 F3 F2 F10
46 plasminogen deficiency, type i 30.5 SERPINE1 SERPINC1 PLAT
47 thrombocytosis 30.5 VWF SERPINC1 PF4 FGA F3 F2
48 ischemic colitis 30.5 SERPINC1 F3 F2
49 hypersplenism 30.5 SERPINC1 F3 F2
50 leech infestation 30.5 F3 F2

Comorbidity relations with Thrombophilia Due to Thrombin Defect via Phenotypic Disease Network (PDN): (show all 13)


Active Peptic Ulcer Disease Acute Cystitis
Decubitus Ulcer Deficiency Anemia
Familial Atrial Fibrillation Femoral Vein Thrombophlebitis
Heart Disease Hypertension, Essential
Hypothyroidism Osteoporosis
Peripheral Vascular Disease Protein-Energy Malnutrition
Schizophreniform Disorder

Graphical network of the top 20 diseases related to Thrombophilia Due to Thrombin Defect:



Diseases related to Thrombophilia Due to Thrombin Defect

Symptoms & Phenotypes for Thrombophilia Due to Thrombin Defect

Human phenotypes related to Thrombophilia Due to Thrombin Defect:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pulmonary embolism 30 HP:0002204
2 deep venous thrombosis 30 HP:0002625
3 thromboembolism 30 HP:0001907
4 cerebral venous thrombosis 30 HP:0005305
5 recurrent thrombophlebitis 30 HP:0004419

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Respiratory Lung:
pulmonary embolism

Neurologic Central Nervous System:
cerebral thrombosis

Cardiovascular Vascular:
deep vein thrombosis
thrombosis, recurrent

Clinical features from OMIM®:

188050 (Updated 08-Dec-2022)

GenomeRNAi Phenotypes related to Thrombophilia Due to Thrombin Defect according to GeneCards Suite gene sharing:

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 no effect GR00402-S-1 10.2 APOH F10 F13A1 F13B F2 F3
2 no effect GR00402-S-2 10.2 APOH F10 F13A1 F13B F2 F3

MGI Mouse Phenotypes related to Thrombophilia Due to Thrombin Defect:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.35 APOH F10 F13A1 F13B F2 F3
2 nervous system MP:0003631 10.17 F2 F3 F5 FGA MTHFR PLAT
3 cardiovascular system MP:0005385 10.17 F10 F13A1 F2 F3 F5 FGA
4 immune system MP:0005387 10.03 F2 F3 F8 FGA HABP2 PLAT
5 liver/biliary system MP:0005370 10.01 F5 FGA HABP2 MTHFR PROC SERPINC1
6 hematopoietic system MP:0005397 9.97 F13A1 F2 F3 F8 FGA PF4
7 mortality/aging MP:0010768 9.91 APOH F10 F13A1 F2 F3 F5
8 integument MP:0010771 9.32 F13A1 F2 F3 F5 FGA MTHFR

Drugs & Therapeutics for Thrombophilia Due to Thrombin Defect

Drugs for Thrombophilia Due to Thrombin Defect (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 320)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Dronedarone Approved Phase 4 141626-36-0 208898
2
Atorvastatin Approved Phase 4 134523-00-5 60823
3
Plasminogen Approved Phase 4 9001-91-6
4
Norethisterone Approved Phase 4 68-22-4 199472 6230
5
Dydrogesterone Approved, Investigational, Withdrawn Phase 4 152-62-5 9051
6
Nadroparin Approved, Investigational Phase 4
7
Fluindione Approved, Investigational Phase 4 957-56-2
8
Rabeprazole Approved, Investigational Phase 4 117976-89-3, 117976-90-6 5029
9
Miconazole Approved, Investigational, Vet_approved Phase 4 22916-47-8 4189
10
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
11
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
12
Clavulanic acid Approved, Vet_approved Phase 4 58001-44-8 5280980
13
Acetaminophen Approved Phase 4 103-90-2 1983
14
Phenindione Approved, Investigational Phase 4 83-12-5 4760
15
Verapamil Approved Phase 4 152-11-4, 52-53-9 2520
16
Streptokinase Approved, Investigational Phase 4 9002-01-1
17
Salicylic acid Approved, Investigational, Vet_approved Phase 4 69-72-7 338
18
Phylloquinone Approved, Investigational Phase 4 84-80-0 5284607
19
Dipyridamole Approved Phase 4 58-32-2 3108
20
Infliximab Approved Phase 4 170277-31-3
21
Adalimumab Approved, Experimental Phase 4 331731-18-1
22
Golimumab Approved Phase 4 476181-74-5
23
Tofacitinib Approved, Investigational Phase 4 477600-75-2 9926791
24
Apixaban Approved Phase 4 503612-47-3 10182969
25
Fondaparinux Approved, Investigational Phase 4 114870-03-0, 104993-28-4 5282448 636380
26
Phenprocoumon Approved, Investigational Phase 4 435-97-2 54680692 9908
27
Ranibizumab Approved Phase 4 347396-82-1
28
Menadione Approved, Nutraceutical Phase 4 58-27-5 4055
29
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 22737-96-8, 68-26-8 5280382 445354
30
Coumarin Experimental Phase 4 91-64-5 323
31 Menaquinone Investigational Phase 4 1182-68-9
32
Norethindrone Acetate Phase 4 541197
33 Calcium, Dietary Phase 4
34
Rosuvastatin Calcium Phase 4 147098-20-2
35 Hormones Phase 4
36 Hypolipidemic Agents Phase 4
37 Anticholesteremic Agents Phase 4
38 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4
39 Lipid Regulating Agents Phase 4
40 Tin Fluorides Phase 4
41 Anti-Ulcer Agents Phase 4
42 Antacids Phase 4
43 Proton Pump Inhibitors Phase 4
44 Anti-Infective Agents Phase 4
45 Antifungal Agents Phase 4
46 Purinergic P2Y Receptor Antagonists Phase 4
47 Anti-Bacterial Agents Phase 4
48 Vasoconstrictor Agents Phase 4
49 Antidotes Phase 4
50 Antibodies, Antiphospholipid Phase 4

Interventional clinical trials:

(show top 50) (show all 1329)
# Name Status NCT ID Phase Drugs
1 A Prospective Study in Chinese Patients With Lower Extremity Ankle Fracture of Oral Anticoagulants to Prevent Venous Thromboembolism (VTE) Unknown status NCT04128254 Phase 4 Apixaban Oral Tablet
2 Patient Adherence to Venous Thromboembolism Prophylaxis in Orthopaedic Trauma Patients: A Randomized, Controlled Trial Comparing Subcutaneous Enoxaparin & Oral Rivaroxaban Unknown status NCT04169269 Phase 4 Enoxaparin 40 milligram/0.4 milliliter Injectable Syringe 0.4 milliliters;Rivaroxaban 10 milligram Oral Tablet
3 Weight Based Enoxaparin for Venous Thromboembolism Prophylaxis in Trauma Patients Unknown status NCT01916707 Phase 4 Dosing of enoxaparin for VTE prophylaxis
4 A Phase IV Study on Impact of Edoxaban Treatment in Italian Cancer Patients With Venous Thromboembolism (EDOI Cancer Study) During Antineoplastic Therapy Unknown status NCT04072068 Phase 4 Edoxaban
5 A Double-blind Randomized Trial to Compare the Efficacy of Intermittent Pneumatic Compression (IPC) With and Without Early Anticoagulant Treatment for Prevention of Venous Thromboembolism (VTE) in Patients With Acute Primary Intracerebral Hemorrhage (ICH) Unknown status NCT00699465 Phase 4 enoxaparin;enoxaparin placebo
6 The Danish Non-vitamin K Antagonist Oral Anticoagulation Study. A Cluster Randomized Study Comparing Safety and Efficacy of Edoxaban, Apixaban, Rivaroxaban and Dabigatran for Oral Anticoagulation in Patients With Venous Thromboembolism. Unknown status NCT03129555 Phase 4 Dabigatran Etexilate Oral Capsule;Rivaroxaban Oral Tablet;Edoxaban Oral Tablet;Apixaban Oral Tablet
7 A Randomized Study Aimed at Comparing Activated Partial Thromboplastin Time and Anti-Xa Activity and in Patients Requiring Unfractionated Heparin Infusion Unknown status NCT03426982 Phase 4 Unfractionated heparin
8 Outcome of Percutaneous Mechanical Thrombectomy to Treat Acute Deep Venous Thrombosis Unknown status NCT02959801 Phase 4
9 The Efficacy and Safety of Prophylactic Anticoagulation for Catheter-related Thrombosis in Patients With Cancer and Implantable Venous Access Ports: a Prospective Multi-center Randomized Controlled Trial. Unknown status NCT04256525 Phase 4 Rivaroxaban 10mg;Aspirin 100mg;low molecule heparin
10 Comparison of Ultra-low-dose Oral Versus Trans-dermal Hormone Therapy on Coagulation Activation and Metabolic Risk Factors for Cardiovascular Disease Unknown status NCT02264743 Phase 4 Femoston Conti;EVOREL® CONTI
11 Two Weeks of Low Molecular Weight Heparin for Distal Vein Thrombosis (TWISTER) Unknown status NCT01252420 Phase 4 Enoxaparin
12 Efficacy and Safety of Warfarin Anticoagulation for Prevention of Portal Vein Thrombosis in Liver Cirrhotic Patients With Hypersplenism After Laparoscopic Splenectomy Unknown status NCT02238444 Phase 4 Warfarin;Dipyridamole;Aspirin;Low Molecular Weight Heparin
13 Effect of Anticoagulation After Endoscopic Therapy in Cirrhotic Patients With Portal Vein Thrombosis:A Zelen-design Multicenter Randomized Controlled Trial Unknown status NCT02630095 Phase 4 Nadroparin Calcium and Warfarin
14 Residual Vein Thrombosis Establishes the Optimal Duration of Low Molecular Weight Heparins in Cancer Patients With Deep Vein Thrombosis of the Lower Limbs Unknown status NCT00450645 Phase 4 low molecular weight heparin
15 Study of the OmniWave Endovascular System in Subjects With Lower and Upper Extremity Deep Vein Thrombosis - SONIC I Study Unknown status NCT00640731 Phase 4
16 Dose Effect of Tranexamic Acid on the Incidence of Deep Venous Thrombus in Cardiac Surgery With Cardiopulmonary Bypass Unknown status NCT03838328 Phase 4 Tranexamic Acid
17 Reload of High Dose Atorvastatin for Preventing Deep Vein Thrombosis in Statin Users Undergoing Total Knee Replacement Arthroplasty: RE-STOP-DVT Study- A Prospective Randomized Controlled Trial Unknown status NCT01063426 Phase 4 High dose Atorvastatin+enoxaparin;Enoxaparin
18 A Zelen-design Randomized Controlled Trial of the Effect of Anticoagulation After Endoscopic Therapy in Cirrhotic Patients With Portal Vein Thrombosis Unknown status NCT02398357 Phase 4 Nadroparin Calcium and Warfarin
19 Applying Pharmacogenetics to Warfarin Dosing in Chinese Patients Unknown status NCT01610141 Phase 4
20 Rosuvastatin for Prevention of Deep Vein Thrombosis in Patients Undergoing Total Knee Replacement Arthroplasty: STOP DVT - A Prospective Randomized Controlled Trial Unknown status NCT01021488 Phase 4 Rosuvastatin 20mg/d for 14days;enoxaparin only
21 Comparison of Low-Molecular-Weight Heparin (LMWH) and Unfractionated Heparin (UFH) in Combination With Thrombolytic Treatment of Acute Massive Pulmonary Thromboembolism Unknown status NCT01956955 Phase 4 enoxaparin ,alteplase, unfractionated heparin
22 Prospective, Pharmacokinetic Study for Determination of the Relationship Between Lean Body Weight and Anti-Xa Activity 4 Hours After Subcutaneous Injection of 5700 IU Nadroparin in Morbidly Obese Patients After Bariatric Surgery. Unknown status NCT02295150 Phase 4 Nadroparin
23 Thromboprophylaxis During Bariatric Surgery Unknown status NCT00444652 Phase 4 Enoxaparin
24 Low Dose Rt-PA Plus LMWH Compared With LMWH Alone for the Treatment of Normotensive Pulmonary Embolism Patients With Acute RV Dysfunction: A Randomized,Multi-Center,Controlled Trial Unknown status NCT01531829 Phase 4 Recombinant tissue plasminogen activator (rt-PA);Low Molecular Weight Heparin
25 Aspirin for Prevention of Venous Thromboembolism Among Ovarian Cancer Patients Receiving Neoadjuvant Chemotherapy Completed NCT04352439 Phase 4 Aspirin
26 Prospective, Multicenter Study Investigating Efficacy and Safety of Oral Rivaroxaban for the Prevention of Recurrent Venous Thromboembolism in Korean Patients With Cancers Completed NCT01989845 Phase 4 Rivaroxaban
27 Effectiveness of Weight-adjusted Prophylactic Low Molecular Weight Heparin Doses Compared With Lower Fixed Prophylactic Doses to Prevent Venous Thromboembolism in COVID-2019. The Multicenter Randomized Controlled Open-label Trial COVI-DOSE Completed NCT04373707 Phase 4 Enoxaparin
28 Comparison of Bleeding Risk Between Rivaroxaban and Apixaban for the Treatment of Acute Venous Thromboembolism: The Pilot Study Completed NCT02559856 Phase 4 Apixaban;Rivaroxaban
29 Apixaban for Primary Prevention of Venous Thromboembolism in Patients With Multiple Myeloma Receiving Immunomodulatory Therapy Completed NCT02958969 Phase 4 Apixaban
30 Randomized Clinical Trial of Dalteparin for Primary Venous Thromboembolism (VTE) Prophylaxis in Pancreatic Cancer Patients Undergoing Chemotherapy Treatment. Completed NCT00966277 Phase 4 Dalteparin
31 Evaluation of Venous Thromboembolism Prevention in High-Risk Trauma Patients: A Prospective Randomized Trial of Standard Enoxaparin Versus Two Anti-Xa Adjusted Dosing Strategies Completed NCT02412982 Phase 4 Enoxaparin 40 mg q12h;Enoxaparin 30 mg q8h
32 An Open-Label, Randomized, Parallel-Group, Multi-Center Study to Evaluate the Efficacy and Safety of Enoxaparin Versus Unfractionated Heparin in the Prevention of Venous Thromboembolism in Patients Following Acute Ischemic Stroke Completed NCT00077805 Phase 4 Enoxaparin sodium
33 FRAG-A001-401: Dalteparin Sodium Injection (Fragmin), Multicenter, Open-Label, Single-arm, Long Term (52 Weeks) Study for Understanding the Safety and Efficacy in Subjects With Malignancies and Symptomatic Venous Thromboembolism Completed NCT00942968 Phase 4 dalteparin
34 Venous Thromboembolism Prevention in the Morbidly Obese Medically Ill Patient: A Pharmacological Analysis of the Predictability of Prophylactic Weight-Based Enoxaparin Dosing. Completed NCT00585182 Phase 4 Enoxaparin 0.5 mg/kg once daily
35 Clinically-Important Venous Thromboembolism Following Lower Extremity Fractures: Epidemiology & Prevention Completed NCT00187408 Phase 4 Low Molecular Weight Heparin (dalteparin)
36 REVERSEII: Validation of the "Men and HERDOO2"- A Clinical Decision Rule to Identify Patients With "Unprovoked" Venous Thromboembolism Who Can Discontinue Anticoagulants After 6 Months of Treatment. Completed NCT00967304 Phase 4
37 Towards Improved Adherence With Extended Venous Thromboembolism Prophylaxis After Abdominal or Pelvic Major Cancer Surgery Completed NCT04479579 Phase 4 Apixaban 2.5 milligram
38 Safety of Fondaparinux as Postpartum Venous Thromboembolism Prophylaxis Completed NCT04447378 Phase 4 Fondaparinux 2.5Mg/0.5Ml Inj Syr
39 D-dimer Test to Establish Duration of Anticoagulation After a First Idiopathic Episode of Venous Thromboembolism; the Prospective Randomized "Prolong" Study Completed NCT00264277 Phase 4 Vitamin K antagonist (Coumarin anticoagulants)
40 Evaluation of Non-Surgical Venous Thromboembolism Prophylaxis Dosing Strategies: Enoxaparin 20mg Versus 30mg Subcutaneously Once Daily in Elderly Patients With Impaired Renal Function Completed NCT03158792 Phase 4 Enoxaparin 20Mg/0.2mL Prefilled Syringe;Enoxaparin 60Mg/0.6Ml Inj Syringe 0.6Ml
41 Weight-Adjusted Dosing of Tinzaparin in Pregnancy Completed NCT00851864 Phase 4 Tinzaparin
42 Impact of Rabeprazole-induced Elevated Gastric pH on APO-Dabigatran Exposure in Healthy Volunteers Completed NCT04157881 Phase 4 RABEprazole 20 Mg Oral Delayed Release Tablet;APO-Dabigatran 150mg
43 Phase IV, Randomized, Open-Label Trial Comparing Long-Term Subcutaneous Low-Molecular Weight Heparin With Oral Anticoagulant Therapy in the Treatment of Deep Venous Thrombosis Completed NCT00689520 Phase 4 tinzaparin;acenocoumarol
44 Plasma Anti-FXa Concentration After Continuous Intravenous Infusion and Subcutaneous Dosing of Enoxaparin for Thromboprophylaxis in Critically Ill Patients Completed NCT02095509 Phase 4 Enoxaparin
45 EUropean Pharmacogenetics of AntiCoagulant Therapy - Phenprocoumon Completed NCT01119274 Phase 4
46 EUropean Pharmacogenetics of AntiCoagulant Therapy - Acenocoumarol Completed NCT01119261 Phase 4
47 Use of TRanEXamic Acid in Reduction Mammoplasty (TREX-ARM): a Double-blinded Randomized Controlled Trial Completed NCT04947514 Phase 4 Tranexamic acid
48 A Multicenter, Randomized-Controlled Trial to Evaluate the Efficacy and Safety of Antithrombotic Therapy for Prevention of Arterial and Venous Thrombotic Complications in Critically-Ill COVID-19 Patients Completed NCT04409834 Phase 4 Unfractionated Heparin IV;Enoxaparin 1 mg/kg;Clopidogrel;Unfractionated heparin SC;Enoxaparin 40 Mg/0.4 mL Injectable Solution
49 EUropean Pharmacogenetics of AntiCoagulant Therapy - Warfarin Completed NCT01119300 Phase 4
50 A Non-Randomized Prospective Study of IVC Filter Retrieval Completed NCT00196118 Phase 4

Search NIH Clinical Center for Thrombophilia Due to Thrombin Defect

Inferred drug relations via UMLS 71 / NDF-RT 50 :


anisindione
apixaban
ardeparin
ardeparin sodium
argatroban
Dalteparin
Dalteparin Sodium
danaparoid
Danaparoid sodium
Dicumarol
Enoxaparin
fondaparinux
heparin
heparin calcium
heparin sodium
HEPARIN SODIUM (BEEF LUNG)
heparin sodium, bovine
heparin sodium, porcine
lepirudin
Papaverine
Papaverine Hydrochloride
Phenprocoumon
rivaroxaban
Streptokinase
tinzaparin
Tinzaparin sodium
Urokinase
Warfarin
Warfarin Sodium
WARFARIN SODIUM ISOPROPANOL COMPLEX

Genetic Tests for Thrombophilia Due to Thrombin Defect

Genetic tests related to Thrombophilia Due to Thrombin Defect:

# Genetic test Affiliating Genes
1 Thrombophilia Due to Thrombin Defect 28 F13A1 F2 HABP2 MTHFR
2 Venous Thrombosis 28
3 Venous Thrombosis, Susceptibility to 28
4 Venous Thromboembolism, Susceptibility to 28
5 Thromboembolism, Susceptibility to 28

Anatomical Context for Thrombophilia Due to Thrombin Defect

Organs/tissues related to Thrombophilia Due to Thrombin Defect:

MalaCards : Lung, Spinal Cord, Liver, Heart, Brain, Breast, Endothelial
ODiseA: Blood And Bone Marrow

Publications for Thrombophilia Due to Thrombin Defect

Articles related to Thrombophilia Due to Thrombin Defect:

(show top 50) (show all 50975)
# Title Authors PMID Year
1
The risk of recurrent deep venous thrombosis among heterozygous carriers of both factor V Leiden and the G20210A prothrombin mutation. 53 62 57 5
10477778 1999
2
A common genetic variation in the 3'-untranslated region of the prothrombin gene is associated with elevated plasma prothrombin levels and an increase in venous thrombosis. 53 62 57 5
8916933 1996
3
Frequent factor II G20210A mutation in idiopathic portal vein thrombosis. 62 57 5
9869612 1999
4
Thrombosis from a prothrombin mutation conveying antithrombin resistance. 57 5
22716977 2012
5
Clinical and analytical relevance of the combination of prothrombin 20210A/A and factor V Leiden: results from a large family. 57 5
10233438 1999
6
Marburg I polymorphism of factor VII-activating protease is associated with idiopathic venous thromboembolism. 53 62 5
15486068 2005
7
Prevalence and Geographical Variation of Prothrombin G20210A Mutation in Patients with Cerebral Vein Thrombosis: A Systematic Review and Meta-Analysis. 62 5
27031503 2016
8
Management of inherited thrombophilia: guide for genetics professionals. 62 57
21707594 2012
9
A follow-up study of a genome-wide association scan identifies a susceptibility locus for venous thrombosis on chromosome 6p24.1. 62 57
20226436 2010
10
The genetics of venous thromboembolism. A meta-analysis involving approximately 120,000 cases and 180,000 controls. 62 5
19652888 2009
11
Predictive value of factor V Leiden and prothrombin G20210A in adults with venous thromboembolism and in family members of those with a mutation: a systematic review. 62 5
19531787 2009
12
Functional polymorphisms of FGA, encoding alpha fibrinogen, are associated with susceptibility to venous thromboembolism in a Taiwanese population. 62 5
16362348 2006
13
A novel polymorphism in the factor XIII B-subunit (His95Arg): relationship to subunit dissociation and venous thrombosis. 62 5
16241947 2005
14
Genetic susceptibility to venous thrombosis. 62 57
11309638 2001
15
alpha-fibrinogen Thr312Ala polymorphism and venous thromboembolism. 62 5
10910940 2000
16
Homozygotes for prothrombin gene 20210 A allele in a thrombophilic family without clinical manifestations of venous thromboembolism. 62 5
10406905 1999
17
Factor XIII Val34Leu is a genetic factor involved in the etiology of venous thrombosis. 62 5
10365735 1999
18
Born to clot: the European burden. 62 5
10233439 1999
19
Venous thrombosis as a chronic disease. 62 57
10089190 1999
20
A comparison of three months of anticoagulation with extended anticoagulation for a first episode of idiopathic venous thromboembolism. 62 57
10089183 1999
21
A single genetic origin for the common prothrombotic G20210A polymorphism in the prothrombin gene. 62 5
9694698 1998
22
Interaction of coagulation defects and cardiovascular risk factors: increased risk of myocardial infarction associated with factor V Leiden or prothrombin 20210A. 62 5
9531249 1998
23
GoldVariants, a resource for sharing rare genetic variants detected in bleeding, thrombotic, and platelet disorders: Communication from the ISTH SSC Subcommittee on Genomics in Thrombosis and Hemostasis. 5
34355501 2021
24
A Novel Heterozygous Variant in F2 Gene in a Chinese Patient With Coronary Thrombosis and Acute Myocardial Infarction Leads to Antithrombin Resistance. 5
32194638 2020
25
Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders. 5
31064749 2019
26
HABP2 Mutation and Nonmedullary Thyroid Cancer. 5
26581002 2015
27
HABP2 Mutation and Nonmedullary Thyroid Cancer. 5
26581003 2015
28
HABP2 Mutation and Nonmedullary Thyroid Cancer. 5
26581005 2015
29
HABP2 Mutation and Nonmedullary Thyroid Cancer. 5
26581004 2015
30
HABP2 Mutation and Nonmedullary Thyroid Cancer. 5
26581001 2015
31
Germline HABP2 Mutation Causing Familial Nonmedullary Thyroid Cancer. 5
26222560 2015
32
A mutation in the HFE gene is associated with altered brain iron profiles and increased oxidative stress in mice. 5
23429074 2013
33
Effect of HFE variants on sphingolipid expression by SH-SY5Y human neuroblastoma cells. 5
21243428 2011
34
HFE polymorphisms affect cellular glutamate regulation. 5
19560233 2011
35
Mutant HFE H63D protein is associated with prolonged endoplasmic reticulum stress and increased neuronal vulnerability. 5
21349849 2011
36
Genetic screening for HFE hemochromatosis in 6,020 Danish men: penetrance of C282Y, H63D, and S65C variants. 5
19159930 2009
37
HFE C282Y/H63D compound heterozygotes are at low risk of hemochromatosis-related morbidity. 5
19554541 2009
38
Factor XIII Val34Leu variant and the risk of myocardial infarction: a meta-analysis. 5
17393027 2007
39
Prothrombin 20210G>A is an ancestral prothrombotic mutation that occurred in whites approximately 24,000 years ago. 5
16493002 2006
40
Meta-analysis of genetic studies in ischemic stroke: thirty-two genes involving approximately 18,000 cases and 58,000 controls. 5
15534175 2004
41
The prothrombin 3'end formation signal reveals a unique architecture that is sensitive to thrombophilic gain-of-function mutations. 5
15059842 2004
42
Genetic variants of coagulation factor XIII, postmenopausal estrogen therapy, and risk of nonfatal myocardial infarction. 5
12456499 2003
43
Marburg I polymorphism of factor VII--activating protease: a prominent risk predictor of carotid stenosis. 5
12578864 2003
44
The frequent Marburg I polymorphism impairs the pro-urokinase activating potency of the factor VII activating protease (FSAP). 5
12138371 2002
45
The effect of the Val34Leu polymorphism in the factor XIII gene in infants with a birth weight below 1500 g. 5
12072871 2002
46
Co-selection of the H63D mutation and the HLA-A29 allele: a new paradigm of linkage disequilibrium? 5
11904676 2002
47
A population-based study of the biochemical and clinical expression of the H63D hemochromatosis mutation. 5
11874997 2002
48
Unilateral chronic thromboembolic pulmonary disease associated with combined inherited thrombophilia. 5
11796466 2002
49
[A family with multiple thrombosis including infancy occurrence]. 57
11570053 2001
50
Thrombophilic gene mutations and recurrent spontaneous abortion: prothrombin mutation increases the risk in the first trimester. 5
11506076 2001

Variations for Thrombophilia Due to Thrombin Defect

ClinVar genetic disease variations for Thrombophilia Due to Thrombin Defect:

5 (show top 50) (show all 266)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 F13A1 NM_000129.4(F13A1):c.103G>T (p.Val35Leu) SNV Protective
16532 rs5985 GRCh37: 6:6318795-6318795
GRCh38: 6:6318562-6318562
2 F2 NM_000506.5(F2):c.1787G>T (p.Arg596Leu) SNV Pathogenic
31922 rs387907201 GRCh37: 11:46760876-46760876
GRCh38: 11:46739326-46739326
3 PLOD1 GRCh37/hg19 1p36.22(chr1:12019879-12028775) CN GAIN Pathogenic
523241 GRCh37: 1:12019879-12028775
GRCh38:
4 F13A1 NM_000129.4(F13A1):c.1184C>T (p.Ala395Val) SNV Pathogenic
911739 rs76451285 GRCh37: 6:6197488-6197488
GRCh38: 6:6197255-6197255
5 F2 NM_000506.5(F2):c.*97G>A SNV Pathogenic
Risk Factor
13310 rs1799963 GRCh37: 11:46761055-46761055
GRCh38: 11:46739505-46739505
6 F2 NM_000506.5(F2):c.1787G>A (p.Arg596Gln) SNV Pathogenic
692073 rs387907201 GRCh37: 11:46760876-46760876
GRCh38: 11:46739326-46739326
7 PROC NM_000312.4(PROC):c.238-2A>G SNV Likely Pathogenic
627040 rs1573442055 GRCh37: 2:128180491-128180491
GRCh38: 2:127422915-127422915
8 HABP2 NM_004132.5(HABP2):c.1601G>A (p.Gly534Glu) SNV Risk Factor
5974 rs7080536 GRCh37: 10:115348046-115348046
GRCh38: 10:113588287-113588287
9 FGA NM_021871.4(FGA):c.991A>G (p.Thr331Ala) SNV Risk Factor
16420 rs6050 GRCh37: 4:155507590-155507590
GRCh38: 4:154586438-154586438
10 PROC NM_000312.4(PROC):c.352T>C (p.Phe118Leu) SNV Likely Pathogenic
469122 rs1553424043 GRCh37: 2:128180699-128180699
GRCh38: 2:127423123-127423123
11 F13B NM_001994.3(F13B):c.344G>A (p.Arg115His) SNV Risk Factor
16520 rs6003 GRCh37: 1:197031021-197031021
GRCh38: 1:197061891-197061891
12 PROC NM_000312.4(PROC):c.814C>T (p.Arg272Cys) SNV Likely Pathogenic
671 rs121918154 GRCh37: 2:128185950-128185950
GRCh38: 2:127428374-127428374
13 PROC NM_000312.4(PROC):c.125G>A (p.Arg42His) SNV Likely Pathogenic
161333 rs369504169 GRCh37: 2:128178913-128178913
GRCh38: 2:127421337-127421337
14 F2 NM_000506.5(F2):c.1621C>T (p.Arg541Trp) SNV Likely Pathogenic
986165 rs886048338 GRCh37: 11:46751078-46751078
GRCh38: 11:46729528-46729528
15 F5 NM_000130.5(F5):c.1106C>T (p.Ala369Val) SNV Uncertain Significance
293631 rs200934105 GRCh37: 1:169524432-169524432
GRCh38: 1:169555194-169555194
16 F2 NM_000506.5(F2):c.813C>T (p.Gly271=) SNV Uncertain Significance
304811 rs5899 GRCh37: 11:46747662-46747662
GRCh38: 11:46726112-46726112
17 F5 NM_000130.5(F5):c.4309A>T (p.Thr1437Ser) SNV Uncertain Significance
293598 rs115148599 GRCh37: 1:169510019-169510019
GRCh38: 1:169540781-169540781
18 F2 NM_000506.5(F2):c.798C>T (p.Asp266=) SNV Uncertain Significance
304810 rs138260543 GRCh37: 11:46747647-46747647
GRCh38: 11:46726097-46726097
19 F5 NM_000130.5(F5):c.6589A>G (p.Ile2197Val) SNV Uncertain Significance
293572 rs372005449 GRCh37: 1:169483637-169483637
GRCh38: 1:169514399-169514399
20 F2 NM_000506.5(F2):c.1541A>G (p.Asn514Ser) SNV Uncertain Significance
304818 rs144011338 GRCh37: 11:46750998-46750998
GRCh38: 11:46729448-46729448
21 F5 NM_000130.5(F5):c.4333A>G (p.Thr1445Ala) SNV Uncertain Significance
293597 rs200204656 GRCh37: 1:169509995-169509995
GRCh38: 1:169540757-169540757
22 F5 NM_000130.5(F5):c.5490G>A (p.Leu1830=) SNV Uncertain Significance
293582 rs149092241 GRCh37: 1:169497262-169497262
GRCh38: 1:169528024-169528024
23 F5 NM_000130.5(F5):c.2222A>G (p.Asn741Ser) SNV Uncertain Significance
293621 rs144979314 GRCh37: 1:169512106-169512106
GRCh38: 1:169542868-169542868
24 F2 NM_000506.5(F2):c.1628G>T (p.Arg543Leu) SNV Uncertain Significance
304821 rs143064939 GRCh37: 11:46751085-46751085
GRCh38: 11:46729535-46729535
25 F5 NM_000130.5(F5):c.165T>C (p.Asn55=) SNV Uncertain Significance
293641 rs781434840 GRCh37: 1:169551754-169551754
GRCh38: 1:169582516-169582516
26 F2 NM_000506.5(F2):c.317-4G>A SNV Uncertain Significance
304807 rs375713715 GRCh37: 11:46744726-46744726
GRCh38: 11:46723176-46723176
27 F2 NM_000506.5(F2):c.1621C>A (p.Arg541=) SNV Uncertain Significance
304820 rs886048338 GRCh37: 11:46751078-46751078
GRCh38: 11:46729528-46729528
28 F5 NM_000130.5(F5):c.885C>T (p.Thr295=) SNV Uncertain Significance
293635 rs148752831 GRCh37: 1:169525951-169525951
GRCh38: 1:169556713-169556713
29 F5 NM_000130.5(F5):c.2241AGA[2] (p.Glu750del) MICROSAT Uncertain Significance
293620 rs575766548 GRCh37: 1:169512079-169512081
GRCh38: 1:169542841-169542843
30 F5 NM_000130.5(F5):c.1034G>A (p.Arg345Gln) SNV Uncertain Significance
293632 rs201078171 GRCh37: 1:169524504-169524504
GRCh38: 1:169555266-169555266
31 F5 NM_000130.5(F5):c.5788+4A>T SNV Uncertain Significance
293577 rs759428783 GRCh37: 1:169494071-169494071
GRCh38: 1:169524833-169524833
32 F5 NM_000130.5(F5):c.5001G>A (p.Pro1667=) SNV Uncertain Significance
746736 rs747456938 GRCh37: 1:169500231-169500231
GRCh38: 1:169530993-169530993
33 F5 NM_000130.5(F5):c.1033C>T (p.Arg345Trp) SNV Uncertain Significance
874622 rs746260106 GRCh37: 1:169524505-169524505
GRCh38: 1:169555267-169555267
34 F5 NM_000130.5(F5):c.628C>A (p.Gln210Lys) SNV Uncertain Significance
875606 rs144937515 GRCh37: 1:169528493-169528493
GRCh38: 1:169559255-169559255
35 F5 NM_000130.5(F5):c.5446C>T (p.Pro1816Ser) SNV Uncertain Significance
876694 rs141977229 GRCh37: 1:169497306-169497306
GRCh38: 1:169528068-169528068
36 F5 NM_000130.5(F5):c.911G>A (p.Gly304Glu) SNV Uncertain Significance
627404 rs865947251 GRCh37: 1:169525925-169525925
GRCh38: 1:169556687-169556687
37 PROC NM_000312.4(PROC):c.386G>A (p.Arg129His) SNV Uncertain Significance
627207 rs746190838 GRCh37: 2:128180733-128180733
GRCh38: 2:127423157-127423157
38 F2 NM_000506.5(F2):c.1598G>A (p.Arg533Gln) SNV Uncertain Significance
1098524 GRCh37: 11:46751055-46751055
GRCh38: 11:46729505-46729505
39 F5 NM_000130.5(F5):c.*288T>C SNV Uncertain Significance
876512 rs116921763 GRCh37: 1:169483263-169483263
GRCh38: 1:169514025-169514025
40 F5 NM_000130.5(F5):c.1158A>G (p.Gln386=) SNV Uncertain Significance
876513 rs148623862 GRCh37: 1:169521933-169521933
GRCh38: 1:169552695-169552695
41 F5 NM_000130.5(F5):c.586+11C>A SNV Uncertain Significance
876600 rs199638362 GRCh37: 1:169529781-169529781
GRCh38: 1:169560543-169560543
42 F5 NM_000130.5(F5):c.5729C>T (p.Pro1910Leu) SNV Uncertain Significance
876651 rs200805004 GRCh37: 1:169494134-169494134
GRCh38: 1:169524896-169524896
43 F5 NM_000130.5(F5):c.4347G>A (p.Pro1449=) SNV Uncertain Significance
876842 rs145732153 GRCh37: 1:169509981-169509981
GRCh38: 1:169540743-169540743
44 F2 NM_000506.5(F2):c.814G>A (p.Val272Met) SNV Uncertain Significance
877749 rs199558597 GRCh37: 11:46747663-46747663
GRCh38: 11:46726113-46726113
45 F2 NM_000506.5(F2):c.874+13G>A SNV Uncertain Significance
877750 rs764029414 GRCh37: 11:46747736-46747736
GRCh38: 11:46726186-46726186
46 F2 NM_000506.5(F2):c.*9T>G SNV Uncertain Significance
877790 rs201577861 GRCh37: 11:46760967-46760967
GRCh38: 11:46739417-46739417
47 F2 NM_000506.5(F2):c.234G>A (p.Thr78=) SNV Uncertain Significance
878743 rs151121282 GRCh37: 11:46741406-46741406
GRCh38: 11:46719856-46719856
48 F2 NM_000506.5(F2):c.285G>A (p.Thr95=) SNV Uncertain Significance
878744 rs147892497 GRCh37: 11:46742359-46742359
GRCh38: 11:46720809-46720809
49 F2 NM_000506.5(F2):c.1298+11G>C SNV Uncertain Significance
879371 rs144587241 GRCh37: 11:46749724-46749724
GRCh38: 11:46728174-46728174
50 F2 NM_000506.5(F2):c.1298+19G>A SNV Uncertain Significance
1676733 GRCh37: 11:46749732-46749732
GRCh38: 11:46728182-46728182

Expression for Thrombophilia Due to Thrombin Defect

Search GEO for disease gene expression data for Thrombophilia Due to Thrombin Defect.

Pathways for Thrombophilia Due to Thrombin Defect

Pathways related to Thrombophilia Due to Thrombin Defect according to GeneCards Suite gene sharing:

(show all 15)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.64 F10 F13A1 F13B F2 F3 F5
2
Show member pathways
12.61 VWF THBD SERPINE1 SERPINC1 PROCR PROC
3
Show member pathways
12.4 FGA F2 F13A1 F10
4
Show member pathways
12.32 VWF THBD SERPINE1 SERPINC1 PROCR PROC
5
Show member pathways
12.17 F2 F5 FGA PROC SERPINC1
6
Show member pathways
12 THBD PROCR PROC PF4 F2
7
Show member pathways
11.77 PROC F8 F2 F10
8
Show member pathways
11.69 VWF FGA F2
9 11.38 VWF FGA F2
10 11.22 PF4 F3 F2
11
Show member pathways
11.15 PROC F2 F10
12 11.09 PROC PLAT FGA F10
13 10.64 SERPINE1 PLAT
14
Show member pathways
10.59 F8 F10
15 10.4 FGA F2 F13B F13A1

GO Terms for Thrombophilia Due to Thrombin Defect

Cellular components related to Thrombophilia Due to Thrombin Defect according to GeneCards Suite gene sharing:

(show all 11)
# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 10.37 APOH F10 F13A1 F13B F2 F3
2 collagen-containing extracellular matrix GO:0062023 10.23 VWF SERPINE1 SERPINC1 PLAT PF4 FGA
3 endoplasmic reticulum lumen GO:0005788 10.21 SERPINC1 PROC FGA F8 F5 F2
4 blood microparticle GO:0072562 10.1 SERPINC1 FGA F2 F13A1
5 Golgi lumen GO:0005796 10.06 PROC F8 F2 F10
6 serine-type endopeptidase complex GO:1905370 9.92 F10 F2 PROC THBD
7 platelet alpha granule GO:0031091 9.88 F5 FGA VWF
8 extracellular space GO:0005615 9.88 APOH F10 F13A1 F13B F2 F3
9 platelet alpha granule lumen GO:0031093 9.8 F13A1 F5 F8 FGA PF4 SERPINE1
10 serine protease inhibitor complex GO:0097180 9.78 SERPINE1 PLAT
11 obsolete intrinsic component of external side of plasma membrane GO:0031233 9.43 F3 F10

Biological processes related to Thrombophilia Due to Thrombin Defect according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 proteolysis GO:0006508 10.31 THBD PROC PLAT HABP2 F2 F10
2 blood coagulation GO:0007596 10.09 F10 F13A1 F13B F2 F3 F5
3 platelet activation GO:0030168 10.02 VWF PF4 FGA F2
4 positive regulation of blood coagulation GO:0030194 9.97 APOH F2 SERPINE1
5 fibrinolysis GO:0042730 9.97 F2 FGA PLAT SERPINE1
6 negative regulation of fibrinolysis GO:0051918 9.96 THBD SERPINE1 PLAT F2 APOH
7 plasminogen activation GO:0031639 9.93 PLAT FGA APOH
8 negative regulation of blood coagulation GO:0030195 9.92 THBD SERPINE1 PROC APOH
9 blood coagulation, fibrin clot formation GO:0072378 9.88 FGA F13B F13A1
10 negative regulation of platelet activation GO:0010544 9.87 THBD F2
11 negative regulation of plasminogen activation GO:0010757 9.86 SERPINE1 PLAT
12 blood coagulation, intrinsic pathway GO:0007597 9.85 F8 APOH
13 negative regulation of coagulation GO:0050819 9.83 PROCR PROC
14 blood coagulation, common pathway GO:0072377 9.81 THBD FGA
15 regulation of blood coagulation GO:0030193 9.73 SERPINC1 F2 APOH
16 regulation of body fluid levels GO:0050878 9.55 F10 F2 F5 F8 PROC
17 hemostasis GO:0007599 9.47 F10 F13A1 F13B F2 F3 F5

Molecular functions related to Thrombophilia Due to Thrombin Defect according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 heparin binding GO:0008201 9.92 SERPINC1 PF4 F2 APOH
2 protease binding GO:0002020 9.76 VWF SERPINE1 SERPINC1 F3
3 peptidase activity GO:0008233 9.73 PROC PLAT HABP2 F2 F10
4 serine-type endopeptidase activity GO:0004252 9.4 PROC PLAT HABP2 F3 F2 F10
5 serine-type peptidase activity GO:0008236 9.35 PROC PLAT HABP2 F2 F10

Sources for Thrombophilia Due to Thrombin Defect

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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