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: C0008533
Disease: Hemophilia B
Hemophilia B
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: C0008533
Disease: Hemophilia B
Hemophilia B
0.100 GeneticVariation disease BEFREE Among the remaining 9504 patients still being followed up, 5748 (60.5%) had haemophilia A, 1300 (13.7%) haemophilia B, 1980 (20.8%) von Willebrand Disease while 476 (5.0%) had another clotting factor deficiency (Factor I, II, V, combined V and VIII, VII, X, XI and XIII). 30515664 2019
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
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: C0008533
Disease: Hemophilia B
Hemophilia B
0.100 Biomarker disease BEFREE Of those cases, 456 (64.8%) had factor VIII and 248 (35.2%) had factor IX deficiency. 30924993 2019
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.100 GeneticVariation disease BEFREE Hemophilia A and Hemophilia B are the most common of the severe bleeding disorders and are caused by a deficiency in blood clotting factor VIII or factor IX respectively. 31421983 2019
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.100 AlteredExpression disease BEFREE Finally, they review the current knowledge on the effect of exercise on specific coagulation factors as well as on global coagulation and demonstrate that exercise increases factor VIII levels in healthy persons, all persons with hemophilia B (HB) and in persons with mild and moderate hemophilia A (HA). 30357762 2018
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.100 Biomarker disease BEFREE Identification of these mutational profiles in <i>F8</i> and <i>F9</i> genes among Malaysian patients will provide a useful reference for the early detection and diagnosis of HA and HB in the Malaysian population. 30210749 2018
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.100 Biomarker disease BEFREE The mean weekly dose of factor VIII in severe HA was 84 international units/kg/wk (IU/kg/wk) vs 71 IU/kg/wk of factor IX in severe HB. 29314552 2018
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.100 Biomarker disease BEFREE Infusion of bypassing agents, such as recombinant activated FVII (rFVIIa) and plasma-derived activated prothrombin complex concentrate, are suggested as alternative therapies to factor VIII (haemophilia A) or IX (haemophilia B) for individuals who no longer respond to these treatments because they develop inhibitory antibodies. 28944952 2017
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.100 Biomarker disease BEFREE The best currently available treatments for hemophilia A and B (factor VIII or factor IX deficiency, respectively) require frequent intravenous infusion of highly expensive proteins that have short half-lives. 28895852 2017
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.100 Biomarker disease BEFREE Deficiencies of blood coagulation factors VIII and IX (haemophilia A and haemophilia B) represent the most common inherited bleeding disorders with a wide range of causative mutations. 25255241 2015
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.100 Biomarker disease BEFREE While the recent results in haemophilia B are extremely encouraging, there is, as yet, no similar data for factor VIII gene therapy. 24762274 2014
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.100 Biomarker disease BEFREE Hemarthrosis, the hallmark of severe hemophilia, is the major cause of serious bleeding events, disability and reduced quality of life in patients with factor VIII or factor IX deficiency. 22992238 2012
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.100 Biomarker disease BEFREE We studied 16 patients with severe hemophilia A (factor VIII and factor VIII:Ag <1%) with intron 22 inversions of the factor VIII gene and 6 patients with hemophilia B, 2 each having a common mutation, for the common prothrombotic markers in the anticoagulant and fibrinolytic cascade. 18550475 2008
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.100 AlteredExpression disease BEFREE Persistent and high levels of factor IX and factor VIII gene expression for treating hemophilia B and A, respectively, were achieved in mouse livers using hydrodynamics-based gene transfer of naked plasmid DNA incorporating these novel gene expression systems. 16096011 2005
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.100 GeneticVariation disease BEFREE Although deficiencies of factor VIII (haemophilia A) and factor IX (haemophilia B) are well recognised, von Willebrand's disease is much more common. 12781551 2003
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.100 GeneticVariation disease BEFREE Hemophilia is the bleeding diathesis caused by mutations in the gene encoding factor VIII (hemophilia A) or factor IX (hemophilia B). 12463593 2002
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.100 Biomarker disease BEFREE Four hundred and seven patients (352 haemophilia A and 55 haemophilia B) were investigated for the presence of factor VIII and IX inhibitors. 11380631 2001
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.100 Biomarker disease BEFREE Sixty probable carriers of haemophilia from 25 families were studied by using coagulation phenotype and DNA analysis: 33 with haemophilia A and 27 with haemophilia B. Coagulation phenotype was based on factor VIII/IX assay and DNA analysis on the examination of restriction fragment length polymorphisms (RFLPs) within and closely linked to factor VIII or IX: 3 RFLP for factor VIII and 3 for factor IX. 1982946 1991
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.100 Biomarker disease BEFREE To assess whether these men might also be infected with HTLV-I, we examined the HTLV-I antibody status of 127 factor VIII (hemophilia A) recipients and 71 factor IX (hemophilia B) recipients. 2508796 1989
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.100 Biomarker disease BEFREE Factor VIII-deficient patients are treated an average of 18 times per year compared to ten times per year for patients with Factor IX deficiency. 6786095 1980
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
0.100 Biomarker disease BEFREE The activity of factor IX in a definite carrier of hemophilia B was significantly lower than that of factor VIII in a definite carrier of hemophilia A.3. 1036844 1976