F2, coagulation factor II, thrombin, 2147

N. diseases: 490; N. variants: 42
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE The rare loss-of-function mutations of the genes encoding natural anticoagulant proteins (i. e. protein C, protein S and antithrombin) and the more common gain-of-function polymorphisms factor V Leiden and prothrombin G20210A are the main genetic determinants of thrombophilia. 26018405 2015
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE Because of the high prevalence of the PT20210A (6.5%) and FVL (2%) mutations in the general Spanish population and the increased risk of VTE associated with OC intake, genetic screening for these mutations should be considered in potential OC users belonging to families with thrombophilia. 11532625 2001
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 Biomarker disease BEFREE We have examined the prothrombin gene as a candidate gene for venous thrombosis in selected patients with a documented familial history of venous thrombophilia. 8916933 1996
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE Tests for thrombophilia disclosed a heterozygote state for the G1.697A factor V Leiden and the G20.210A prothrombin mutation. 17454173 2007
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE Prothrombin G20210A polymorphism and thrombophilia. 10852421 2000
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE Mutations in factor V (factor V Leiden-G1691A) and prothrombin (G20210A) genes are important risk factors for thrombophilia due to their high incidence in patients with thromboembolic events, especially among the young. 16256098 2006
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE We studied the relationship between prothrombin G20210A and factor V Leiden mutations in patients with thrombophilia. 10941343 2000
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE Studies in Western countries show that VTE recurrent rates are lower in the presence of a transient provoking factor, older age, female sex and/or hormonal use, while thrombophilia (factor V Leiden or prothrombin mutation) has no predictive role. 30334695 2019
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE All participants underwent screening for thrombophilia-associated polymorphisms including factor V Leiden (FVL), prothrombin G20210A (PTG), factor V H1299 R (factor V HR2), factor XIII V34 L, β-fibrinogen-455 G>A, plasminogen activator inhibitor-1 4G/5G, human platelet antigen-1 a/b, methylene tetrahydrofolate reductase (MTHFR) C677 T, MTHFR A1298C, angiotensin-converting enzyme I/D, apolipoprotein B R3500Q, and apolipoprotein E (Apo E). 27729560 2018
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE Testing for factor V Leiden and prothrombin G20210A mutations, homocysteine, anticardiolipin antibodies (ACAs), lupus anticoagulant, and functional assays for protein S, protein C, and antithrombin III were performed to detect a hypercoagulable state.No IRB approval was necessary. 12654376 2003
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE Deficiencies of the natural anticoagulants (protein S, protein C, and antithrombin) are the predominant thrombophilias in Asia whereas factor V Leiden and prothrombin G20210A gene mutation are not found or rarely reported. 21833449 2011
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE Abnormalities in haemostasis that are associated with clinical thrombophilia include heritable defects, such as mutations in the genes encoding the natural anticoagulants antithrombin, protein C, and protein S, or clotting factors prothrombin and factor V, and acquired defects, such as antiphospholipids. 11002758 2000
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE The polymorphism of the prothrombin gene in Mexican mestizo patients with antiphospholipid syndrome does not seem to be related to the thrombophilia observed in these patients. 10726001 1999
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE Our results indicated that the factor V Leiden and prothrombin G20210A mutations are not rare among populations of Western Iran and that the relationship between venous thrombophilia and these mutations have to be further studied in Western Iran population, which, in turn, may suggest a causal effect. 17700999 2008
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE We describe the first reported case of a thrombophilia patient genetically homozygous for a recently described polymorphism in the 3'-UTR (untranslated region) of the prothrombin gene. 9282798 1997
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE Patients with no flow-limiting stenosis after MI had increased frequencies of 2 inherited thrombophilias (Factor V Leiden and beta-fibrinogen 448 A allele), and there was a trend toward an increased frequency of prothrombin variant G20210A compared with patients with > or =1 stenosis. 12514663 2003
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE Ninety-nine patients were tested for the presence of common polymorphisms related to thrombophilia (prothrombin and factor V Leiden) in order to assess genetic risk factors, and several parameters classically associated with vascular disorders (cardiovascular events, brain stroke and antiphospholipid syndrome) were evaluated. 19005247 2009
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 Biomarker disease BEFREE The plasma concentration of prothrombin fragment 1+2 (F1+2), which is a marker of hypercoagulable states, was also measured in patients and family members of resistant subjects (n = 38). 10494665 1999
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE The odds ratios (OR) for DVT risk were: 2.4 (95% CI, 1.0-6.3) for the total DVT patients and 5.2 (95% CI, 1.4-19.5) for the patients with clinically suspected thrombophilia with the prothrombin mutation. 11114134 2000
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 Biomarker disease BEFREE Thus, this mini-review aims to address a comprehensive summary of thrombophilias and thrombosis, and discuss the role of polymorphisms in Factor V (FV Leiden), Prothrombin, Plasminogen activator inhibitor type-1 (PAI-1), Methylenetetrahydrofolate reductase (MTHFR) and Cystathionine β-synthase (CBS) genes as risk factors for thrombophilias. 22512572 2012
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE To determine the prevalence of markers of thrombophilia in patients with severe ovarian hyperstimulation syndrome (OHSS) and to evaluate the cost-effectiveness of screening for factor V Leiden and prothrombin G20210A mutations in women entering an IVF program. 15066453 2004
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE The other two genetic risk factors, resistance to activated protein C associated with the factor V Leiden mutation and increased prothrombin associated with the prothrombin 20210 A allele, are much more prevalent and together can be found in 63% of the thrombophilia families. 9299960 1997
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE The inherited hypercoagulable states can be divided into those that are common and associated with a modest risk of thrombosis (i.e. factor V Leiden and G20210A prothrombin gene) and those that are uncommon but associated with a high risk of thrombosis. 10774459 2000
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE Ancillary testing revealed inherited thrombophilia (Prothrombin 20,210 G > A and MTHFR 677 C > T mutation). 29299826 2018
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE This work aimed to study the FV Leiden and the prothrombin gene polymorphism in adult Egyptian patients with acute leukemia and their importance in thrombophilia screening. 25260809 2014