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: C0020640
Disease: Inherited Factor II deficiency
Inherited Factor II deficiency 		0.800 GeneticVariation disease UNIPROT Molecular defect of prothrombin Barcelona. Substitution of cysteine for arginine at residue 273. 3771562 1986
CUI: C0020640
Disease: Inherited Factor II deficiency
Inherited Factor II deficiency 		0.800 GeneticVariation disease UNIPROT The prothrombin sample used was from a heterozygote but contained exclusively a defective prothrombin molecule, since the patient was heterozygous for both dysprothrombinemia and hypoprothrombinemia. 3567158 1987
CUI: C0020640
Disease: Inherited Factor II deficiency
Inherited Factor II deficiency 		0.800 GeneticVariation disease UNIPROT Identification of the primary structural defect in the dysthrombin thrombin Quick I: substitution of cysteine for arginine-382. 3242619 1988
CUI: C0020640
Disease: Inherited Factor II deficiency
Inherited Factor II deficiency 		0.800 GeneticVariation disease UNIPROT Prothrombin Himi: a compound heterozygote for two dysfunctional prothrombin molecules (Met-337-->Thr and Arg-388-->His). 1421398 1992
CUI: C0020640
Disease: Inherited Factor II deficiency
Inherited Factor II deficiency 		0.800 GeneticVariation disease LHGDN Severe prothrombin deficiency caused by prothrombin-Edmonton (R-4Q) combined with a previously undetected deletion. 17002658 2006
CUI: C0020640
Disease: Inherited Factor II deficiency
Inherited Factor II deficiency 		0.800 GeneticVariation disease BEFREE Prophylactic administration of prothrombin complex concentrates for congenital prothrombin deficiency with a novel frameshift mutation, prothrombin saitama. 23152198 2013
CUI: C0020640
Disease: Inherited Factor II deficiency
Inherited Factor II deficiency 		0.800 GeneticVariation disease LHGDN True congenital prothrombin deficiency due to a 'new' mutation in the pre-propeptide (ARG-39 GLN). 18852482 2008
CUI: C0020640
Disease: Inherited Factor II deficiency
Inherited Factor II deficiency 		0.800 GeneticVariation disease UNIPROT Determination of the amino acid substitution in human prothrombin type 3 (157 Glu leads to Lys) and the localization of a third thrombin cleavage site. 6405779 1983
CUI: C0020640
Disease: Inherited Factor II deficiency
Inherited Factor II deficiency 		0.800 GeneticVariation disease UNIPROT Detection of a single base substitution of the gene for prothrombin Tokushima. The application of PCR-SSCP for the genetic and molecular analysis of dysprothrombinemia. 1349838 1992
CUI: C0020640
Disease: Inherited Factor II deficiency
Inherited Factor II deficiency 		0.800 GeneticVariation disease UNIPROT Prothrombin Tokushima: characterization of dysfunctional thrombin derived from a variant of human prothrombin. 3801671 1987
CUI: C0020640
Disease: Inherited Factor II deficiency
Inherited Factor II deficiency 		0.800 GeneticVariation disease BEFREE A patient with a severe bleeding tendency and hypoprothrombinemia (Factor II activity 2%, Factor II antigen 5%) was screened for the presence of alterations in his prothrombin gene. 7740448 1994
CUI: C0020640
Disease: Inherited Factor II deficiency
Inherited Factor II deficiency 		0.800 GeneticVariation disease UNIPROT Prothrombin Shanghai: hypoprothrombinaemia caused by substitution of Gla29 by Gly. 14962227 2004
CUI: C0020640
Disease: Inherited Factor II deficiency
Inherited Factor II deficiency 		0.800 GeneticVariation disease UNIPROT Prothrombin Frankfurt: a dysfunctional prothrombin characterized by substitution of Glu-466 by Ala. 7792730 1995
CUI: C0020640
Disease: Inherited Factor II deficiency
Inherited Factor II deficiency 		0.800 GeneticVariation disease LHGDN Molecular genetics of hereditary prothrombin deficiency in Indian patients: identification of a novel Ala362 --> Thr (Prothrombin Vellore 1) mutation. 15892853 2005
CUI: C0020640
Disease: Inherited Factor II deficiency
Inherited Factor II deficiency 		0.800 GeneticVariation disease UNIPROT Prothrombin Padua I: incomplete activation due to an amino acid substitution at a factor Xa cleavage site. 7865694 1994
CUI: C0020640
Disease: Inherited Factor II deficiency
Inherited Factor II deficiency 		0.800 GeneticVariation disease BEFREE The abnormal prothrombin gene of an Italian patient with a severe bleeding tendency and hypoprothrombinemia was selected for study and compared with the prothrombin genes of healthy controls. 9134629 1997
CUI: C0020640
Disease: Inherited Factor II deficiency
Inherited Factor II deficiency 		0.800 GeneticVariation disease UNIPROT Substitution of valine for glycine-558 in the congenital dysthrombin thrombin Quick II alters primary substrate specificity. 2719946 1989
CUI: C0020640
Disease: Inherited Factor II deficiency
Inherited Factor II deficiency 		0.800 GeneticVariation disease UNIPROT Prothrombin Salakta: substitution of glutamic acid-466 by alanine reduces the fibrinogen clotting activity and the esterase activity. 1354985 1992
CUI: C0020640
Disease: Inherited Factor II deficiency
Inherited Factor II deficiency 		0.800 GeneticVariation disease BEFREE Hypoprothrombinemia (OR 1.676, 95% CI 1.275-2.203) and prothrombin time (PT) prolongation (OR 2.050, 95% CI 1.398-3.005) were significantly associated with NMTT-cephalosporins, whereas bleeding was not (OR 1.359, 95% CI 0.920-2.009). 31623191 2019
CUI: C0012739
Disease: Disseminated Intravascular Coagulation
Disseminated Intravascular Coagulation 		0.600 GeneticVariation disease BEFREE The disseminated intravascular coagulation (DIC) score, which is based on readily available and relatively inexpensive coagulation parameters, including platelet count, fibrin-related markers, prothrombin time and fibrinogen, has not been reported regarding PVT development in cirrhotic patients to date. 29178991 2018
CUI: C0012739
Disease: Disseminated Intravascular Coagulation
Disseminated Intravascular Coagulation 		0.600 GeneticVariation disease BEFREE Secondary outcomes included platelet count, disseminated intravascular coagulation (DIC), and prothrombin time (PT). 30064685 2018
CUI: C0012739
Disease: Disseminated Intravascular Coagulation
Disseminated Intravascular Coagulation 		0.600 GeneticVariation disease BEFREE In Swiss albino mice, intraperitoneal injection of PAF causes sudden death with oxidative stress and disseminated intravascular coagulation (DIC), characterized by prolonged prothrombin time, thrombocytopenia, reduced fibrinogen content, and increased levels of fibrinogen degradation products. 31442556 2019
CUI: C0398623
Disease: Thrombophilia
Thrombophilia 		0.600 GeneticVariation disease BEFREE Factor V Leiden (FVL) and prothrombin gene (G20210A) mutations are the most common types of hereditary thrombophilias, but are usually undiagnosed because most carriers are asymptomatic. 15006834 2004
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 important polymorphisms leading to inherited thrombophilia are Factor V Leiden (FVL), Prothrombin G20210A and MTHFR C677T and A1298C. 26135458 2016