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 In 107 asymptomatic and untreated patients with inherited syndromes associated with thrombophilia (antithrombin III, protein C and protein S deficiencies), we compared in parallel two plasma peptides which reflect activation of the common coagulation pathway: the prothrombin fragment 1 + 2 (F1 + 2) and fibrinopeptide A (FPA). 1535736 1992
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE The plasma concentration of prothrombin fragment 1 + 2 (F1 + 2), which is a marker of hypercoagulable states, was measured in 205 members of 34 thrombosis-prone families harbouring the Arg506 to Gln mutation (APC-resistance) and/or inherited protein S deficiency. 8815575 1996
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 This prothrombin gene sequence variation adds further to the list of recognized genetic risk factors for thrombophilia. 9266933 1997
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 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 heterozygous 20210 G/A prothrombin genotype is associated with early venous thrombosis in inherited thrombophilias and is not increased in frequency in artery disease. 9409210 1997
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE The aim of this study was to compare the prevalence of the prothrombin 20210A allele in control subjects and in subjects with recognised thrombophilia and to establish whether the additional inheritance of the PT 20210A allele is associated with an increased risk of venous thromboembolism. 9423788 1997
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE The most common causes of hereditary thrombophilia are reviewed with an emphasis on resistance to activated protein C, prothrombin variant 20210A, and hyperhomocystinemia, and the current status of laboratory testing for thrombophilia is discussed. 9817680 1998
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE Here we carried out an investigation of the most common inherited risk factors for hypercoagulability including the mutation in the factor V gene (factor V Leiden), the transition 20.210G-->A in the prothrombin gene, and also the homozygosity for the 677C-->T transition in the methylenetetrahydrofolate reductase gene (MTHFR). 9890294 1999
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE Familial thrombophilia and the prothrombin 20210A mutation: association with increased thrombin generation and unusual thrombosis. 10070829 1999
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE Point mutations in the factor V gene (factor V Leiden) and the prothrombin gene (the substitution of A for G at position 20210) are the most common causes of inherited thrombophilia. 10477778 1999
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 Prothrombin G20210A gene mutation and further prothrombotic risk factors in childhood thrombophilia. 10521389 1999
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE In contrast to patients with bleeding disorders, characterization of the factor V Leiden and prothrombin 20,210 variants has dramatically improved the diagnostic yield for patients with inherited thrombophilia. 10530716 1999
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE To evaluate the role of inherited thrombophilia in the development of central venous line (CVL)-related thrombosis, the following parameters were determined in 77 pediatric-oncologic patients with CVL: activated protein C (APC)-ratio, factor V (FV) G1691A and prothrombin G20210A mutation, protein C, protein S, antithrombin, coagulation factor XII, lipoprotein (a) and homocysteine. 10650856 1999
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 Several recent studies have analyzed a possible effect of thrombophilia risk factors such as factor V Leiden, the prothrombin variant (allele 20210 A), and homozygosity for thermolabile methylenetetrahydrofolate reductase (MTHFR-T) on the development of ischemic stroke (IS). 10739378 2000
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 Biomarker disease BEFREE Therefore, although included commonly in the investigation profile, the search for the 20210 G to A prothrombin abnormality should not be considered yet to be an essential component in the routine study of hypercoagulable and/or thrombotic conditions. 10741896 1999
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE More recently, the prothrombin 20210 and thermolabile methylene tetrahydrofolate reductase (MTHFR) 677 variants have been identified as possible risk factors associated with thrombophilia. 10759012 2000
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE It is recommended that women with a personal or strong family history of venous thromboembolism should be screened for the prothrombin mutation either before or early in pregnancy, in addition to screening for other thrombophilias. 10759281 2000
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 The discovery of this prothrombin mutation has important clinical implications because it is the second most common cause of genetic thrombophilia, second only to the factor V Leiden. 10775030 2000
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 GeneticVariation disease BEFREE Prothrombin G20210A polymorphism and thrombophilia. 10852421 2000
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.600 Biomarker disease BEFREE Laboratory tests for hypercoagulability were positive for PT 20210 A variant. 10887932 2000