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: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 Biomarker disease BEFREE Prophylactic injections of factor VIII reduce the incidence of bleeds and slow the development of joint damage in people with hemophilia. 29447219 2018
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 Biomarker disease BEFREE Inhibitors to factor VIII in a family with mild hemophilia: molecular characterization and response to factor VIII and desmopressin. 8584995 1995
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 Biomarker disease BEFREE Expanding the ortholog approach for hemophilia treatment complicated by factor VIII inhibitors. 25315236 2015
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 Biomarker disease BEFREE Treatment options exist for patients with severe hemophilia and high titer factor VIII inhibitors but is often inadequate. 31688638 2019
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 Biomarker disease BEFREE Molecular genetic studies have shown that development of antibodies to factor VIII (inhibitors) occurs most frequently in patients with severe haemophilia due to major gene lesions including inversions, stop codons and large deletions. 9157573 1997
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 Biomarker disease BEFREE Replacement therapy with missing factor (F) VIII or IX in haemophilia patients for bleed management and preventative treatment or prophylaxis is standard of care. 29845491 2018
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 Biomarker disease BEFREE The incidence of a "pre-peak" over the well on crossed immunoelectrophoresis of factor VIII-related antigen (VIIIR:Ag) was found to be not significantly different in groups of hemophilia carriers and non-carrier women. 6801807 1982
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 AlteredExpression disease BEFREE To date, research in the field of gene therapy for haemophilia has largely relied on retroviruses, adenoviruses and adeno-associated viruses as transfer vectors and the major aims will be to achieve stable longlasting in vivo expression of factors VIII or IX (FVIII or FIX) at therapeutic levels. 11554929 2001
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 AlteredExpression disease BEFREE The clinical and laboratory findings of von Willebrand's disease (prolonged bleeding time, low factor VIII, and abnormal platelet activity) are discussed, and a protocol for management of patients with low factor VIII levels (such as hemophilia carriers and subjects with hemophilia A or von Willebrand's disease) undergoing open-heart surgery is proposed. 1078707 1975
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 Biomarker disease BEFREE Antibody formation against therapeutic agents, such as tumor necrosis factor inhibitors and Factor VIII, that leads to treatment failure has become a major challenge in the treatment of rheumatoid arthritis and hemophilia. 29550477 2018
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 GeneticVariation disease BEFREE The series comprised 49 Swedish patients with severe haemophilia A [belonging to 49 families (21 with known and 28 with sporadic haemophilia)], of whom 12 had developed F. VIII inhibitors. 7781755 1995
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 Biomarker disease BEFREE The development of inhibitors to factor VIII or IX remains a challenge for hemophilia care and recent approaches to achieve immune tolerance induction are discussed. 18381091 2008
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 Biomarker disease BEFREE Prediction of human pharmacokinetics of activated recombinant factor VII and B-domain truncated factor VIII from animal population pharmacokinetic models of haemophilia. 29369801 2018
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 AlteredExpression disease BEFREE Individuals with hemophilia A and a documented history of factor VIII infusions before the introduction of viral inactivation procedures (1979-1984) were recruited from 36 hemophilia treatment centers (HTCs), and their genome-wide genetic variants were compared with those from matched HIV-infected individuals. 23372042 2013
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 GeneticVariation disease BEFREE However, the mutant failed to bind factor VIII, demonstrating that the mutation was functionally related to the observed hemophilia phenotype. 8500791 1993
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 Biomarker disease BEFREE Prevalence of Obesity in Young Patients with Severe Haemophilia and Its Potential Impact on Factor VIII Consumption in Germany. 30722069 2019
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 AlteredExpression disease BEFREE The MD analysis is in line with clinical data of patients who had <1% Factor VIII levels (severe hemophilia) with episodic bleeding, and were on more than one treatment. 30793713 2019
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 Biomarker disease BEFREE There is considerable variability in bleeding patterns of severe haemophilia (<1% factor VIII). 15269826 2004
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 AlteredExpression disease BEFREE The patient's haemophilia was studied with a newly developed immunological technique determining the plasma antigen associated with Factor VIII activity, and was found to be a genetic variant of moderately severe haemophilia A. 519907 1979
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 AlteredExpression disease BEFREE Examination of Factor VIII activity and Factor VIII-related antigen revealed that the Factor VIII activity/Factor VIII-related antigen ratio was significantly decreased in their mother and maternal grandmother consistent with the carrier state of hemophilia. 998619 1976
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 Biomarker disease BEFREE Development of inhibitors to factor concentrates (especially factor VIII) remains one of the most serious complications of haemophilia. 9156121 1997
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 Biomarker disease BEFREE Objectives Development of neutralizing antibodies against factor VIII is the major complication in hemophilia care which makes replacement therapies ineffective. 29993342 2018
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 Biomarker disease BEFREE The use of recombinant factor VIII in haemophilia therapy can avoid the dependence on blood-derived products and prevent the occurrence of transfusion-associated infections with blood-borne pathogens. 9607109 1997
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 GeneticVariation disease BEFREE Specific mutations in the A2 domain of factor VIII are associated with mild haemophilia and a higher risk of inhibitor development. 26057490 2015
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 AlteredExpression disease BEFREE Because factor VIII is used only once in bilateral TKA, it is performed in hemophilia to reduce costs. 28724345 2017