Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2147
Gene Symbol: F2
F2 		0.500 GermlineCausalMutation disease ORPHANET A novel congenital dysprothrombinemia leading to defective prothrombin maturation. 25242243 2014
Entrez Id: 2147
Gene Symbol: F2
F2 		0.500 GeneticVariation disease BEFREE A novel congenital dysprothrombinemia leading to defective prothrombin maturation. 25242243 2014
Entrez Id: 2147
Gene Symbol: F2
F2 		0.500 GermlineCausalMutation disease ORPHANET Congenital prothrombin deficiency: an update. 23852823 2013
Entrez Id: 2147
Gene Symbol: F2
F2 		0.500 GeneticVariation disease BEFREE Molecular genetics of hereditary prothrombin deficiency in Indian patients: identification of a novel Ala362 --> Thr (Prothrombin Vellore 1) mutation. 15892853 2005
Entrez Id: 2147
Gene Symbol: F2
F2 		0.500 Biomarker disease BEFREE Successful prophylactic treatment for bleeding in a girl with severe hereditary prothrombin deficiency using a prothrombin complex concentrate (Bebulin VH). 15284583 2004
Entrez Id: 2147
Gene Symbol: F2
F2 		0.500 GeneticVariation disease BEFREE However, prothrombin antigen/activity ratios indicate a dysprothrombinemia as well, most likely due to the inability of R457Q prothrombin to activate fully to thrombin. 14629473 2003
Entrez Id: 2147
Gene Symbol: F2
F2 		0.500 GeneticVariation disease BEFREE Prothrombin Scranton: substitution of an amino acid residue involved in the binding of Na+ (LYS-556 to THR) leads to dysprothrombinemia. 11341500 2001
Entrez Id: 2147
Gene Symbol: F2
F2 		0.500 GeneticVariation disease BEFREE Prothrombin San Antonio: a single amino acid substitution at a factor Xa activation site (Arg320 to His) results in dysprothrombinemia. 10627484 2000
Entrez Id: 2147
Gene Symbol: F2
F2 		0.500 AlteredExpression disease BEFREE This discordance in the functional and immunologic prothrombin levels was evidence for dysprothrombinemia. 9490687 1998
Entrez Id: 2147
Gene Symbol: F2
F2 		0.500 Biomarker disease BEFREE A single nucleotide substitution responsible for dysprothrombinemia of prothrombin Tokushima was detected, as were three polymorphisms. 1334372 1992
Entrez Id: 2147
Gene Symbol: F2
F2 		0.500 GeneticVariation disease BEFREE Prothrombin Perija: a new congenital dysprothrombinemia in an Indian family. 3810561 1986
Entrez Id: 2147
Gene Symbol: F2
F2 		0.500 Biomarker disease BEFREE Even fewer, six families, have been found to have a functionally abnormal prothrombin (dysprothrombinemia) in their blood. 625142 1978
Entrez Id: 2147
Gene Symbol: F2
F2 		0.500 SusceptibilityMutation disease CLINVAR
Entrez Id: 2147
Gene Symbol: F2
F2 		0.500 CausalMutation disease CLINVAR
Entrez Id: 2159
Gene Symbol: F10
F10 		0.010 GeneticVariation disease BEFREE Prothrombin San Antonio: a single amino acid substitution at a factor Xa activation site (Arg320 to His) results in dysprothrombinemia. 10627484 2000