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: C0398625
Disease: Protein C Deficiency
Protein C Deficiency
0.100 Biomarker disease BEFREE Hemostatic assessment of combined anticoagulant therapy using warfarin and prothrombin complex concentrates in a case of severe protein C deficiency. 30963470 2019
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency
0.100 GeneticVariation disease BEFREE Factor V G1691A mutation significantly increased the risk of neonatal HIE (OR 4.5, 95% CI 1.4-14.5, P = .012), while prothrombin G 20210A mutation and protein C deficiency were not. 26400660 2017
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency
0.100 GeneticVariation disease BEFREE Global coagulation tests were normal in all patients, as were antithrombin and protein S. Activated protein C resistance caused by the factor V Leiden mutation was found in four patients, one patient had the G20210A mutation of the prothrombin gene, and one patient had protein C deficiency. 26612425 2016
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency
0.100 GeneticVariation disease BEFREE We report the case of a 74-year-old man with protein C deficiency and heterozygous prothrombin G20210A gene mutation who had a successful left THA with perioperative administration of human zymogen protein C concentrate in addition to anticoagulation with enoxaparin. 20012238 2010
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency
0.100 GeneticVariation disease LHGDN Activated protein C concentrate treatment for skin necrosis under warfarin treatment in severe genetic protein C deficiency combined with prothrombin mutation and factor V Leiden. 19190829 2009
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency
0.100 GeneticVariation disease BEFREE Thrombophilia testing included factor V Leiden (FVL), prothrombin 20210A mutation (P2), methylene tetrahydrofolate reductase deficiency (MTHFR), fasting serum homocysteine (HC), lupus anticoagulant (LA), anticardiolipin antibodies (ACA), antithrombin deficiency (AT), protein S deficiency (PS), and protein C deficiency (PC). 16055356 2005
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency
0.100 GeneticVariation disease BEFREE For example, the concurrent use of a panel of three genetic tests (factor V Leiden, prothrombin variant G20210A, and protein C deficiency) increases the positive predictive value of testing for venous thrombosis at least eightfold. 12592605 2003
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency
0.100 GeneticVariation disease BEFREE Likelihood analysis was used to test the effect of the G20210A prothrombin mutation and the His107Pro protein C mutation (resulting from a C insertion) on thrombosis status and prothrombin level in a large kindred of French Canadian descent with type I protein C deficiency. 10744139 2000
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency
0.100 GeneticVariation disease BEFREE We describe the case of a patient with combined heterozygous prothrombin 20210A mutation and type 1 protein C deficiency who presented with massive mesenteric venous infarction of his small bowel and survived following the use of protein C concentrate and extensive small bowel resection. 10567604 1999
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency
0.100 GeneticVariation disease BEFREE While FV G1691A and prothrombin G20210 A mutations show no significant data in our study, lipoprotein (a) levels >30 mg/dl protein C deficiency, anticardiolipin antibodies and combined prothrombotic disorders seem to be important risk factors for manifestation of ischaemic strokes in children with underlying cardiac disorders. 10650850 1999
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency
0.100 GeneticVariation disease BEFREE The following frequencies (patients v controls), odds ratios (ORs), and confidence intervals (CIs) of single risk factors were found: Lp(a) >30 mg/dL (26.4% v 4.7%; OR/CI, 7.2/3.8 to 13.8; P <.0001), FV G1691A (20.2% v 4%; OR/CI, 6/2.97 to 12.1; P <.0001), protein C deficiency (6% v 0.67%; OR/CI, 9.5/2 to 44.6; P =.001), PT G20210A (6% v 1.3%; OR/CI, 4.7/1.4 to 15.6; P =.01), and the MTHFR TT677 genotype (23.6% v 10.4%; OR/CI, 2.4/1.53 to 4.5; P <.0001). 10572079 1999
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency
0.100 GeneticVariation disease BEFREE In addition, combined prothrombotic defects were found in a further 10 patients: the FV mutation was combined with the prothrombin G20210A variant (n = 1), increased Lp(a) (n = 3), protein C deficiency (n = 1), and homozygosity for the C677T MTHFR gene mutation (n = 1). 10029588 1999
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency
0.100 Biomarker disease BEFREE 3%) or protein C deficiency (0.3%) in the patients, but not in the controls (prothrombin and FV mutation, P=0.0048; prothrombin and protein C deficiency, not significant). 10521389 1999
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency
0.100 GeneticVariation disease BEFREE Four out of 14 patients with a single detect (hyperlipoproteinemia, heterozygous FV G1691A and prothrombin G20210A mutation, protein C deficiency type I) and all three patients with combined defects (heterozygous FV G1691A mutation combined with heterozygous prothrombin G20210A variant, protein S deficiency or hyperlipoproteinemia) suffered from CVL-related thrombosis. 10650856 1999
CUI: C0398625
Disease: Protein C Deficiency
Protein C Deficiency
0.100 GeneticVariation disease BEFREE In view of recent reports of an increased risk for ischemic cerebral vascular disease in patients with the prothrombin 20210A mutation, we suggest that many of the reported cases of ischemic stroke and protein C deficiency may have had additional prothrombotic disorders such as the prothrombin mutation. 9890720 1998