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 Hemophilia is a rare bleeding disorder caused by a deficiency of the plasma coagulation factors VIII and IX (hemophilia A [HA] and hemophilia B [HB], respectively). 31669933 2020
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 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 AlteredExpression disease BEFREE One trial of tranexamic acid published in 1972 included 28 participants with mild, moderate or severe haemophilia A and B and one of EACA published in 1971 included 31 people with haemophilia with factor VIII or factor IX levels less than 15%. 31002742 2019
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 GeneticVariation disease BEFREE Our report describes the second patient reported to have severe hemophilia due to this mutation and the only case of a factor VIII inhibitor associated with this mutation. 30783064 2019
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 Biomarker disease BEFREE A working group was formed for the NHLBI State of the Science Workshop: Factor VIII Inhibitors: Generating a National Blueprint for Future Research to solicit input from the US haemophilia community and international collaborators to consider design of pregnancy/birth longitudinal cohorts that leverage -omics, existing phenotypic data, and in silico modelling to study inhibitors. 31329365 2019
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 Biomarker disease BEFREE Magnetic resonance imaging confirmed intramuscular hematoma and factor VIII assay confirmed hemophilia. 31094906 2019
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 Biomarker disease BEFREE Human plasma Factor VIII and IX are still used for treatment of haemophilia in the era of recombinant products. 31753775 2019
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 Biomarker disease BEFREE Compensated pathogenic variants in coagulation factors VIII and IX present complex mapping between molecular impact and hemophilia severity. 31267011 2019
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 Biomarker disease BEFREE Haemophilia is a hereditary X-linked recessive disorder caused by a deficiency of either clotting factor VIII (haemophilia A) or IX (haemophilia B). 30962210 2019
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 Biomarker disease BEFREE Hemophilia is a rare inherited disorder associated with abnormal repeated bleeding and debilitating joint pain due to deficiency in coagulating factors VIII and IX. 31679381 2019
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 AlteredExpression disease BEFREE Persons with hemophilia have bleeding episodes into the soft tissues and joints, which are treated with self-infusion of factor VIII or IX concentrates. 31332444 2019
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 GeneticVariation disease BEFREE Two of these proteins, produced in the liver, factor VIII and factor IX, are deficient or present a functional defect in people with haemophilia. 30999657 2019
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 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 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 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 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 Development of inhibitors to transfused factor VIII in patients with hemophilia A continues to be a challenge for professionals involved in hemophilia care. 30181842 2018
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 Biomarker disease BEFREE Individuals with the inherited bleeding disorder hemophilia have achieved tremendous advances in clinical outcomes through widespread implementation of prophylactic replacement with safe and efficacious factor VIII and IX. 29077262 2018
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 GeneticVariation disease BEFREE Simultaneous sequencing of the F8 and F9 genes resulted in identification of non-deleterious variants previously reported as causative in haemophilia. 29878652 2018
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 AlteredExpression 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: 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
CUI: C0684275
Disease: Hemophilia, NOS
Hemophilia, NOS
0.100 Biomarker disease BEFREE The prevalence of factor VIII and IX inhibitors among Saudi patients with hemophilia: Results from the Saudi national hemophilia screening program. 28079788 2017