F2, coagulation factor II, thrombin, 2147

N. diseases: 61; N. variants: 24
Disease: Inherited Factor II deficiency ×
Source: CURATED ×
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 GermlineCausalMutation disease ORPHANET A novel congenital dysprothrombinemia leading to defective prothrombin maturation. 25242243 2014
CUI: C0020640
Disease: Inherited Factor II deficiency
Inherited Factor II deficiency 		0.800 GermlineCausalMutation disease ORPHANET Congenital prothrombin deficiency: an update. 23852823 2013
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 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 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 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 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 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 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 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 Biomarker disease GENOMICS_ENGLAND
CUI: C0020640
Disease: Inherited Factor II deficiency
Inherited Factor II deficiency 		0.800 Biomarker disease CTD_human