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 AlteredExpression disease BEFREE Thrombophilia screening showed a mutant prothrombin 20210A allele which is an inherited coagulopathy associated with increased plasma levels of prothrombin and increased risks of mainly venous thrombosis. 10894919 2000
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE Thrombophilia was implicated in the development of pregnancy complications, including recurrent idiopathic pregnancy loss, and is aggravated in women who are carriers of factor V G1691A (FV Leiden) and prothrombin (PRT) G20210A single-nucleotide polymorphisms (SNPs). 16138341 2005
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE Thrombophilia that is common among Caucasians is caused by genetic polymorphisms of coagulation factor V Leiden (R506Q) and prothrombin G20210A. 23301217 2013
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE Prothrombin G20210A gene mutation and further prothrombotic risk factors in childhood thrombophilia. 10521389 1999
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 Prothrombin gene polymorphism G20210A seems to be nonexistent in our population and AT III deficiency also appears to be low compared to other markers of thrombophilia. 11292195 2001
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE Prothrombin 19911 A>G did not increase the risk of CSVT in carriers of factor V Leiden (adjusted odds ratio 1.6, 95%CI 0.6–4.7), prothrombin 20210 GA (odds ratio 1.1, 95%CI 0.6–2.2), nor in patients without known thrombophilia (odds ratio 1.3, 95%CI 0.5–3.1). 20482605 2010
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE A case-control design within a large cohort of families with thrombophilia was chosen to calculate the risk of recurrent venous thrombosis in individuals with homozygosity or double heterozygosity of factor V Leiden and/or prothrombin G20210A. 20368522 2010
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE A literature review identified case-control and cohort studies evaluating the relationship between IUGR and the following thrombophilias: homozygous or heterozygous factor V Leiden or prothrombin (PT) G20210A mutations and homozygous methylenetetrahydrofolate reductase (MTHFR) C677T mutation. 19461414 2009
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE A male adolescent with high-risk thrombophilia because of combined heterozygous factor V Leiden (G1691A) and prothrombin gene (G20210A) mutation developed HIT II. 16499600 2006
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 Biomarker disease CTD_human A prospective study of the prevalence of heparin-induced antibodies and other associated thromboembolic risk factors in pediatric patients undergoing hemodialysis. 16628723 2006
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 After adjustment for other inherited causes of thrombophilia (deficiency of antithrombin III, protein C or S, factor V Leiden) the overall risk for VTE associated with the prothrombin polymorphism was 3.4 times higher than in the controls (95% CI, 2.0 to 5.8). 12551828 2003
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 Also, our results show that the FII C20221T is a rare variant in this population and therefore, routine thrombophilia screening should not include screening for this genotype. 25316662 2014
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE Analysis of the factor V Leiden (FVL) and prothrombin G20210A mutations are the most prevalent in thrombophilia. 11571714 2001
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 Based on the hypothesis that an inherited predilection to hypercoagulability may predispose to HSP or may mark those who develop acute clinical manifestations, we evaluated the possible roles of methylenetetrahydrofolate reductase (MTHFR) gene C677T, factor V (FV) gene G1691A (Leiden), and prothrombin gene G20210A polymorphisms in patients with HSP. 16791607 2006
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 Clinical data were collected and a thrombophilia investigation was performed, including analysis of autoantibodies against protein S (anti-PS) and prothrombin (anti-PT). 19303627 2010
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 Biomarker disease BEFREE Clinicians have attempted to quantify the hypercoagulable state produced in various malignancies using common coagulation tests such as prothrombin time, activated partial thromboplastin time, and platelet count; however, due to these tests' focus on individual aspects of coagulation during one specific time point, they have failed to provide clinicians the complete picture of malignancy-associated coagulopathy (MAC). 31108555 2019
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE Codon 596 (CGG) of prothrombin is a hot spot for mutations, which constitute a new and relatively frequent cause of inherited thrombophilia. 27013614 2016
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE Complete hematological work-up for hypercoagulable state revealed a heterozygous mutation of the prothrombin gene (G20210A). 17663298 2007
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 Biomarker disease BEFREE During the procedure, we observed increases in prothrombin, fibrinogen and D-dimer concentrations, a slight shortening of APTT and a hypercoagulation shift in the thrombodynamics parameters. 31120933 2019