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: C0019069
Disease: Hemophilia A
Hemophilia A
0.100 Biomarker disease BEFREE Antigen-specific in vitro expansion of factor VIII-specific regulatory T cells induces tolerance in hemophilia A mice. 31609041 2020
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.100 Biomarker disease BEFREE Hemophilia A is a congenital disorder caused by deficiency or malfunction of coagulation factor (F) VIII. 30350119 2020
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.100 Biomarker disease BEFREE Rurioctacog alfa pegol (Adynovate) is a modified recombinant factor VIII concentrate used for treating hemophilia A. Aiming to improve treatment tailoring on the Web-Accessible Population Pharmacokinetic Service-Hemophilia (WAPPS-Hemo) platform for patients of all ages treated with Adynovate, we have developed and evaluated a population pharmacokinetic (PopPK) model. 31435896 2020
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
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: C0019069
Disease: Hemophilia A
Hemophilia A
0.100 Biomarker disease BEFREE BAY 81-8973 (Kovaltry<sup>®</sup> ) is a full-length, unmodified recombinant human factor VIII approved in China for prophylaxis and on-demand treatment in patients with haemophilia A. 30993836 2019
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.100 Biomarker disease BEFREE Activated factor VIII (FVIIIa) mimetic bsAbs aim to enable prophylactic treatment of hemophilia A patients with and without inhibitors. 30887655 2019
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
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: C0019069
Disease: Hemophilia A
Hemophilia A
0.100 Biomarker disease BEFREE Rurioctocog alfa (recombinant factor VIII: Advate<sup>®</sup>) is available for the control of bleeding in patients with hemophilia A in Japan. 30604312 2019
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.100 Biomarker disease BEFREE Factor VIII replacement is still the standard of care in haemophilia A. 31846611 2019
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
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: C0019069
Disease: Hemophilia A
Hemophilia A
0.100 Biomarker disease BEFREE The comprehensive main phase of the pivotal pathfinder 2 trial showed N8-GP dosed every 4 days (Q4D) provided favourable safety and efficacy for preventing bleeds in 175 patients with haemophilia A. 30817066 2019
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.100 GeneticVariation disease BEFREE Hemophilia A (HA), a rare X-linked recessive genetic disorder caused by insufficient blood clotting factor VIII, leaves affected individuals susceptible to spontaneous and traumatic hemorrhage. 30700417 2019
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
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: C0019069
Disease: Hemophilia A
Hemophilia A
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: C0019069
Disease: Hemophilia A
Hemophilia A
0.100 Biomarker disease BEFREE Hemophilia A (HA) is an X-linked hereditary bleeding disorder caused by deficiency of coagulation factor (F) VIII activity. 31203578 2019
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.100 Biomarker disease BEFREE <b>Purpose:</b> Congenital hemophilia A and B are bleeding disorders characterized by deficiency of factors VIII and IX, respectively. 31354248 2019
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
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: C0019069
Disease: Hemophilia A
Hemophilia A
0.100 Biomarker disease BEFREE Magnetic resonance imaging confirmed intramuscular hematoma and factor VIII assay confirmed hemophilia. 31094906 2019
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
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: C0019069
Disease: Hemophilia A
Hemophilia A
0.100 Biomarker disease BEFREE Model-based evaluation of low-dose factor VIII prophylaxis in haemophilia A. 31050134 2019
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.100 AlteredExpression disease BEFREE Evaluation of an automated chromogenic assay for Factor VIII clotting activity measurement in patients affected by haemophilia A. 31044485 2019
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
0.100 Biomarker disease BEFREE Fanhdi/Alphanate is a plasma derived factor VIII concentrate used for treating hemophilia A, for which there has not been any dedicated model describing its pharmacokinetics (PK). 31115857 2019
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
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: C0019069
Disease: Hemophilia A
Hemophilia A
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: C0019069
Disease: Hemophilia A
Hemophilia A
0.100 Biomarker disease BEFREE The evolving understanding of factor VIII binding sites and implications for the treatment of hemophilia A. 29866493 2019