SERPINC1, serpin family C member 1, 462

N. diseases: 184; N. variants: 46
Disease: Factor V Leiden mutation ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		0.090 GeneticVariation disease BEFREE All women underwent testing for factor V Leiden mutation (FVL), mutation of the coagulation factors II (FII20210), methylenetetrahydrofolate reductase (MTHFR), plasminogen activator inhibitor-1, antithrombin III (ATIII), protein C (PC) and protein S, lupus anticoagulant (LAC) antibodies, anticardiolipin antibodies and anti-beta-2-glycoprotein-1. 25586317 2016
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		0.090 GeneticVariation disease BEFREE These included screening coagulations tests, tests for lupus anticoagulant (LA), IgG and IgM antibodies to anticardiolipin antibodies (ACA), beta2 glycoprotein 1 (beta2GP1) and annexin V. The genetic markers studied included protein C (PC), protein 5 (PS), antithrombin III (AT III), factor V Leiden (FVL), PT gene G20210A, MTHFR C677T, EPCR 23 bp insertion and PAI 4G/5G polymorphisms. 19004141 2009
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		0.090 GeneticVariation disease BEFREE All women were tested for the presence of inherited [factor V Leiden (FVL) mutation, prothrombin mutation, methylenetetrahydrofolate reductase (MTHFR) mutation and deficiencies in proteins S and C and antithrombin III] or acquired (lupus anticoagulant and anticardiolipin) thrombophilic factors. 16835215 2006
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		0.090 GeneticVariation disease BEFREE We found 22 (48%) patients with the SPS, 11 (24%) with the aPCR phenotype, 5 (11%) with the factor V Leiden mutation, 7 (15%) with the prothrombin gene mutation, 29 (63%) with the MTHFR gene mutation, 11 (24%) with the factor V HR2 haplotype, 11 (24%) with antiphospholipid antibodies, 4 (9%) with PS deficiency, 6 (13%) with PC deficiency, one with the FV Hong Kong mutation, and one with AT-III deficiency. 15609280 2005
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		0.090 AlteredExpression disease BEFREE A member of this family carrying this mutation was also found to be heterozygotic for the MTHFR mutation, factor V Leiden mutation and had low serum levels of antithrombin III, thus resulting in the appearance of recurrent strokes and thrombotic episodes since his early adulthood. 16193256 2005
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		0.090 AlteredExpression disease BEFREE The following laboratory tests were performed: prothrombin time, partial thromboplastin time, fibrinogen levels, antithrombin III, plasmatic fibronectin (as a marker of endothelial damage), haptoglobin (as a marker of intravascular haemolysis), a functional test for APC-R and analysis of factor V Leiden mutation by polymerase chain reaction. 12571435 2002
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		0.090 Biomarker disease BEFREE Our data do not suggest that thrombotic diatheses due to deficiency of protein C, protein S, or antithrombin III or due to factor-V Leiden mutation are major causes of Legg-Perthes disease. 12208918 2002
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		0.090 GeneticVariation disease BEFREE Determinations in blood samples of homocysteine concentrations; the occurrence of 677 C-->T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene; protein C activities; activated protein C resistance ratios; concentrations of free protein S antigen; antithrombin III activities; and the occurrence of factor V Leiden mutation. 10847236 2000
CUI: C0584960
Disease: Factor V Leiden mutation
Factor V Leiden mutation 		0.090 GeneticVariation disease BEFREE We studied the prevalence of antithrombin III (AT III), protein C (PC) and protein S (PS) deficiencies and factor V Leiden mutation in thrombophilia in Taiwan. 9271815 1997