Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.080 GeneticVariation disease BEFREE The difference of homocysteine, folate, vitamin B12, antithrombin III activity, protein C activity, free protein S activity, and activated protein C resistance were not statistically significant; and the number of subjects with MTHFR C677T, prothrombin G20210A, and factor V Leiden mutations were similar between the study groups. 25264994 2016
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.080 GeneticVariation disease BEFREE We detected methylenetetrahydrofolate reductase (MTHFR) A1298C, MTHFR C677T, factor V Leiden, PAI-1, mutant prothrombin G20210A, plasma homocysteine, antithrombin III, protein S and activated protein C resistance. 20868443 2010
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.080 GeneticVariation disease BEFREE Fasting total homocysteine, protein C (PC), protein S (PS), antithrombin (AT), activated protein C resistance (APCR) and lupus anticoagulant (LA) were assessed.MTHFR C677T mutation was determined. 19940469 2010
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.080 GeneticVariation disease BEFREE Prevalence of thrombophilia was, respectively: protein S deficiency (11.5% versus 5.5%), protein C deficiency (0.76% versus 1%), resistance to activated protein C (2.3% versus 3.5%), mutation in V Leiden factor (1.5% versus 2%), antithrombin III deficiency (0% versus 0%), lupus anticoagulant (0% versus 0.5%), anticardiolipin antibodies (3% versus 10%; P=0.01), hyperhomocysteinemia (31.5% versus 53.5%; P=0.0001), mutation of the MTHFR gene in homocigosis (10% versus 5%), and heterocigosis (27.6% versus 41.9%; P=0.01). 16109904 2005
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.080 GeneticVariation disease BEFREE The pooled OR (and 95% CI) were: protein C deficiency, 6.49 (2.96 to 14.27); protein S deficiency, 1.14 (0.34 to 3.80); AT deficiency, 1.02 (0.28 to 3.67); APCr, 1.34 (0.16 to 11.52); FV1691 GA, 1.22 (0.80 to 1.87); PT20210GA, 1.10 (0.51 to 2.34); MTHFR C677T, 1.70 (1.23 to 2.34); and total plasma homocysteine >95th centile, 1.36 (0.53 to 3.51). 15781933 2005
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.080 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: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.080 GeneticVariation disease BEFREE Activated protein C resistance due to factor V Leiden heterozygous and heterozygocity for the methylenetetrahydrofolate reductase were diagnosed and suspected to be the risk factors that contribute to the development of the deep vein thrombosis in this SCA patient. 10505325 1999
CUI: C0600433
Disease: Activated Protein C Resistance
Activated Protein C Resistance
0.080 GeneticVariation disease BEFREE These gene defects include a G-A transition at nucleotide 1691 in exon 10 of the Factor V gene causing activated protein C resistance; a G-A transition in the 3' untranslated region of the prothrombin gene at nucleotide position 20210 (G-A), which is associated with increased levels of prothrombin activity; and a C-T polymorphism at nucleotide 677 in the methylenetetrahydrofolate reductase gene responsible for an alanine to valine substitution, resulting in the synthesis of a thermolabile form of methylenetetrahydrofolate reductase that causes increased levels of homocysteine. 10593555 1999