F2, coagulation factor II, thrombin, 2147

N. diseases: 490; N. variants: 42
Disease: Inherited Factor II deficiency ×
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 Biomarker disease GENOMICS_ENGLAND
CUI: C0020640
Disease: Inherited Factor II deficiency
Inherited Factor II deficiency 		0.800 Biomarker disease CTD_human
CUI: C0020640
Disease: Inherited Factor II deficiency
Inherited Factor II deficiency 		0.800 Biomarker disease BEFREE Molecular and genetic analysis of a compound heterozygote for dysprothrombinemia of prothrombin Tokushima and hypoprothrombinemia. 1334372 1992
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 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 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 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 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 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 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 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 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 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 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 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 Biomarker disease BEFREE Automated fluorescence-based DNA sequence analysis of amplified genomic DNA was used to define prothrombin gene regions from a patient with severe functional hypoprothrombinemia and little detectable prothrombin antigen. 9351523 1997
CUI: C0020640
Disease: Inherited Factor II deficiency
Inherited Factor II deficiency 		0.800 CausalMutation disease CLINVAR Geographic distribution of the 20210 G to A prothrombin variant. 9569177 1998
CUI: C0020640
Disease: Inherited Factor II deficiency
Inherited Factor II deficiency 		0.800 AlteredExpression disease BEFREE Cases with a parallel decrease in prothrombin activity and antigen should not be considered as examples of hypoprothrombinemia. 9863703 1998
CUI: C0020640
Disease: Inherited Factor II deficiency
Inherited Factor II deficiency 		0.800 Biomarker disease BEFREE The primary effect of this defect appears to be destabilization of the circulating prothrombin, creating a moderate hypoprothrombinemia. 14629473 2003
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 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 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 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 Biomarker disease BEFREE Prothrombin (factor II) deficiency is a rare autosomal recessive coagulation disorder that occurs in approximately 1 in 1-2 million people. 19141155 2008