Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Hereditary factor II deficiency disease
0.500 GermlineCausalMutation disease ORPHANET A novel congenital dysprothrombinemia leading to defective prothrombin maturation. 25242243 2014
Hereditary factor II deficiency disease
0.500 GeneticVariation disease BEFREE A novel congenital dysprothrombinemia leading to defective prothrombin maturation. 25242243 2014
Hereditary factor II deficiency disease
0.500 GermlineCausalMutation disease ORPHANET Congenital prothrombin deficiency: an update. 23852823 2013
Hereditary factor II deficiency disease
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
Hereditary factor II deficiency disease
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
Hereditary factor II deficiency disease
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
Hereditary factor II deficiency disease
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
Hereditary factor II deficiency disease
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
Hereditary factor II deficiency disease
0.500 AlteredExpression disease BEFREE This discordance in the functional and immunologic prothrombin levels was evidence for dysprothrombinemia. 9490687 1998
Hereditary factor II deficiency disease
0.500 Biomarker disease BEFREE A single nucleotide substitution responsible for dysprothrombinemia of prothrombin Tokushima was detected, as were three polymorphisms. 1334372 1992
Hereditary factor II deficiency disease
0.500 GeneticVariation disease BEFREE Prothrombin Perija: a new congenital dysprothrombinemia in an Indian family. 3810561 1986
Hereditary factor II deficiency disease
0.500 Biomarker disease BEFREE Even fewer, six families, have been found to have a functionally abnormal prothrombin (dysprothrombinemia) in their blood. 625142 1978
Hereditary factor II deficiency disease
0.500 SusceptibilityMutation disease CLINVAR
Hereditary factor II deficiency disease
0.500 CausalMutation disease CLINVAR