COX8A, cytochrome c oxidase subunit 8A, 1351

N. diseases: 526; N. variants: 2
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 AlteredExpression disease BEFREE However, due to a lack of international consensus on methods for the laboratory testing of factor VIII levels in plasma, we would not currently recommend the measurement of factor VIII levels as part of routine thrombophilia screening. 31798819 2019
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 Biomarker disease BEFREE Increased factor VIII plays a significant role in plasma hypercoagulability phenotype of patients with cirrhosis. 29577605 2018
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 Biomarker disease BEFREE These new approaches include replacement therapy with porcine factor VIII concentrate (currently approved for use in acquired hemophilia patients), bispecific antibodies to simulate the biologic function of factor VIII (already in use in some jurisdictions), pegylated forms of activated factor VII, and strategies targeting the natural anticoagulants TFPI and antithrombin, which create a hypercoagulable phenotype to counterbalance the hypocoagulability imposed by hemophilia. 30093246 2018
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 AlteredExpression disease BEFREE Hypercoagulability may be caused by an increase in the level of various coagulation factors such as factor (F) VIII, FX, FIX, von Willebrand F (vWF), and fibrinogen, while hypofibrinolysis by changes in coagulation parameters such as a decrease in plasmin and plasmin activator or an increase in α2-antiplasmin, plasminogen activator inhibitor-1 and thrombin activatable fibrinolysis inhibitor. 29201071 2017
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 AlteredExpression disease BEFREE Of 146 patients with primary osteonecrosis, 65 (45%) had none of the 5 thrombophilias (Factor V Leiden heterozygosity, high levels of Factors VIII and XI, anticardiolipin antibody immunoglobulin M, and homocysteine) that otherwise distinguished patients with osteonecrosis from control subjects (P<.05). 28877324 2017
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 AlteredExpression disease BEFREE A thrombophilia screen post-partum revealed a significantly elevated factor VIII level and a hypercoagulable state that justified prolonged anticoagulation. 28578446 2017
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 Biomarker disease BEFREE Gut-derived endotoxin stimulates factor VIII secretion from endothelial cells. Implications for hypercoagulability in cirrhosis. 28716745 2017
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 AlteredExpression disease BEFREE We showed that the hypercoagulability in patients with CD is associated with increased levels of factor VIII and NET-related variables. 27448294 2017
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 AlteredExpression disease BEFREE The major thrombophilias in the arthroscopy group were factor V Leiden heterozygosity (40%), high factor VIII level (50%), and high homocysteine (30%). 27459142 2016
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 Biomarker disease BEFREE The hypercoagulability is due mainly to the cortisol-induced increase in von Willebrand factor (VWF) and factor VIII. 21304226 2011
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation disease BEFREE A subsequent magnetic resonance venography of his head revealed venous thrombosis, and other investigations revealed an elevated factor VIII level as well as a mutation at the MTHFR locus, consistent with an elevated risk for hypercoagulability. 19131586 2009
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 AlteredExpression disease BEFREE Increased levels of factor VIII (odds ratio [OR], 3.1; 95% confidence interval [CI], 1.6-6.0), von Willebrand factor (OR, 2.8; 95% CI, 1.4-5.4), non-O blood group (OR, 2.1; 95% CI, 1.3-3.4), and thrombophilia (OR, 3.4; 95% CI, 1.6-7.1) emerged as independent risk factors for venous thromboembolism. 19398413 2009
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 AlteredExpression disease BEFREE Thrombophilia was suspected and the relative investigation revealed high levels of factor VIII procoagulant, which is frequent in hemodialysis patients, and resistance to activated protein C. Polymerase chain reaction detected that the patient was heterozygous for factor V Leiden, which is quite common in general population. 18387172 2008
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 AlteredExpression disease BEFREE Although our patient is a smoker, used oral contraceptives and was found to have a heterozygote mutation at the factor V Leiden gene, the most important factor contributing to her thrombophilia is thought to be her significantly elevated factor VIII. 17669671 2007
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 Biomarker disease BEFREE We carried out serologic measures of thrombophilia (homocysteine, anticardiolipin antibodies [ACLA] immunoglobulin G and immunoglobulin M, lupus anticoagulant, factor VIII, factor XI, protein C, total and free protein S, antithrombin III) and hypofibrinolysis (plasminogen activator inhibitor activity [PAI-Fx], lipoprotein[a]). 16154434 2005
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation disease BEFREE The case with factor VIII of 160% had two other thrombophilias (compound MTHFR C677T-A1298C heterozygosity, resistance to activated protein C), and hypofibrinolytic high Lp(a). 16015408 2005
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation disease BEFREE Newly described abnormalities associated with thrombophilia include the syndrome of activated Protein C resistance (APCR), the prothrombin 20210A mutation, hyperhomocysteinemia, and elevated levels of coagulation factors VIII and XI. 12032428 2002
CUI: C0398623
Disease: Thrombophilia
Thrombophilia
0.100 GeneticVariation disease BEFREE We conclude that high factor VIII:Ag levels are a highly prevalent risk factor for venous thrombosis and contribute to risk in families with thrombophilia, and that these high levels are likely to be genetically determined by factors other than just blood group. 10886197 2000