PC, pyruvate carboxylase, 5091

N. diseases: 183; N. variants: 32
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0311370
Disease: Lupus anticoagulant disorder
Lupus anticoagulant disorder
0.060 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: C0311370
Disease: Lupus anticoagulant disorder
Lupus anticoagulant disorder
0.060 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: C0311370
Disease: Lupus anticoagulant disorder
Lupus anticoagulant disorder
0.060 GeneticVariation disease BEFREE We analysed the association of venous and arterial thrombotic events with acquired (anticardiolipin antibodies (ACAs) and lupus anticoagulant (LA)) and inherited (antithrombin (AT), protein C (PC), protein S (PS) deficiencies, factor V Leiden and the prothrombin G20210A mutation), thrombophilic risk factors in 86 SLE patients and 89 healthy controls. 19029633 2008
CUI: C0311370
Disease: Lupus anticoagulant disorder
Lupus anticoagulant disorder
0.060 GeneticVariation disease BEFREE Blood samples were analyzed for protein C (PC); protein S; antithrombin (AT); activated PC resistance (APCR); lipoprotein (a) [Lp(a)]; lupus anticoagulant; anticardiolipin antibodies; and the methylenetetrahydrofolate reductase C677T (MTHFR), factor V G1619A, factor II G20210A (PT), plasminogen activator inhibitor-1 4G6755G, and tissue factor pathway inhibitor C536T mutations. 16061602 2005
CUI: C0311370
Disease: Lupus anticoagulant disorder
Lupus anticoagulant disorder
0.060 Biomarker disease BEFREE These consisted of 5 AT III deficiencies, 9 PC deficiencies, 10 PS deficiencies, 1 combined PC & PS deficiency (all in the heterozygous range), and 5 patients with LA and/or ACA. 8052955 1994
CUI: C0311370
Disease: Lupus anticoagulant disorder
Lupus anticoagulant disorder
0.060 Biomarker disease BEFREE Acquired deficiency of the PC pathway occurs in disseminated intravascular coagulation and possibly other diseases such as those associated with a lupus anticoagulant. 2961308 1987