COX8A, cytochrome c oxidase subunit 8A, 1351

N. diseases: 526; N. variants: 2
Disease: Severe hereditary factor VIII deficiency disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272322
Disease: Severe hereditary factor VIII deficiency disease
Severe hereditary factor VIII deficiency disease 		0.100 GeneticVariation disease BEFREE A recurrent missense mutation (Arg----Gln) and a partial deletion in factor VIII gene causing severe haemophilia A. 2493803 1989
CUI: C0272322
Disease: Severe hereditary factor VIII deficiency disease
Severe hereditary factor VIII deficiency disease 		0.100 AlteredExpression disease BEFREE Thromboelastography during coronary artery bypass grafting surgery of severe hemophilia A patient - the effect of heparin and protamine on factor VIII activity. 27273141 2017
CUI: C0272322
Disease: Severe hereditary factor VIII deficiency disease
Severe hereditary factor VIII deficiency disease 		0.100 Biomarker disease BEFREE Continuous infusions of B domain-truncated recombinant factor VIII, turoctocog alfa, for orthopedic surgery in severe hemophilia A: first case report. 29383626 2018
CUI: C0272322
Disease: Severe hereditary factor VIII deficiency disease
Severe hereditary factor VIII deficiency disease 		0.100 Biomarker disease BEFREE To survey the entire population (n = 116) afflicted with severe haemophilia A or B born in Sweden over a 20-y period (1980-1999), and to examine the epidemiological, genetic and clinical aspects of development of inhibitors to factors VIII and IX (FVIII/FIX). 12222714 2002
CUI: C0272322
Disease: Severe hereditary factor VIII deficiency disease
Severe hereditary factor VIII deficiency disease 		0.100 GeneticVariation disease BEFREE An inversion in intron 1 of the factor VIII gene causing 2-5% of severe hemophilia A cases was also screened in 128 Pakistani hemophilia A patients. 22270795 2012
CUI: C0272322
Disease: Severe hereditary factor VIII deficiency disease
Severe hereditary factor VIII deficiency disease 		0.100 Biomarker disease BEFREE Approximately 25% of severe hemophilia A (HA) patients develop antibodies to factor VIII protein. 19817985 2009
CUI: C0272322
Disease: Severe hereditary factor VIII deficiency disease
Severe hereditary factor VIII deficiency disease 		0.100 GeneticVariation disease BEFREE The strongest risk factor identified for inhibitor development in people with severe hemophilia A is the type of factor VIII gene mutation. 15996930 2005
CUI: C0272322
Disease: Severe hereditary factor VIII deficiency disease
Severe hereditary factor VIII deficiency disease 		0.100 AlteredExpression disease BEFREE We report a case of severe haemophilia A (<1% factor VIII level) in a female resulting from an interesting and improbable combination of events. 10583534 1999
CUI: C0272322
Disease: Severe hereditary factor VIII deficiency disease
Severe hereditary factor VIII deficiency disease 		0.100 GeneticVariation disease BEFREE Pharmacokinetic Studies of Factor VIII in Chinese Boys with Severe Hemophilia A: A Single-Center Study. 29848837 2018
CUI: C0272322
Disease: Severe hereditary factor VIII deficiency disease
Severe hereditary factor VIII deficiency disease 		0.100 Biomarker disease BEFREE Cost-utility analysis of life-long prophylaxis with recombinant factor VIIIFc vs recombinant factor VIII for the management of severe hemophilia A in Sweden. 29139314 2018
CUI: C0272322
Disease: Severe hereditary factor VIII deficiency disease
Severe hereditary factor VIII deficiency disease 		0.100 GeneticVariation disease BEFREE The most common defect in patients is an inversion of the factor VIII gene that accounts for nearly 45% of individuals with severe hemophilia A. 11754115 2002
CUI: C0272322
Disease: Severe hereditary factor VIII deficiency disease
Severe hereditary factor VIII deficiency disease 		0.100 GeneticVariation disease BEFREE Intron 22 factor VIII gene inversions in Argentine families with severe haemophilia A. 10632737 2000
CUI: C0272322
Disease: Severe hereditary factor VIII deficiency disease
Severe hereditary factor VIII deficiency disease 		0.100 Biomarker disease BEFREE Variant of intron 22 inversions in the factor VIII gene in severe hemophilia A. 9391727 1997
CUI: C0272322
Disease: Severe hereditary factor VIII deficiency disease
Severe hereditary factor VIII deficiency disease 		0.100 GeneticVariation disease BEFREE Molecular characterization of severe hemophilia A suggests that about half the mutations are not within the coding regions and splice junctions of the factor VIII gene. 1908096 1991
CUI: C0272322
Disease: Severe hereditary factor VIII deficiency disease
Severe hereditary factor VIII deficiency disease 		0.100 AlteredExpression disease BEFREE About one-third of patients with non-severe haemophilia A (HA) show a discrepancy of factor (F)VIII activity (FVIII:C) measured by one-stage (FVIII:C1st), two-stage assays or the chromogenic method (FVIII:Cchr). 24452774 2014
CUI: C0272322
Disease: Severe hereditary factor VIII deficiency disease
Severe hereditary factor VIII deficiency disease 		0.100 Biomarker disease BEFREE Due to the different structure of this antibody it cannot be neutralized by factor VIII inhibitors and has the possibility to achieve haemostasis in patients with severe haemophilia A with and without inhibitors. 27885373 2017
CUI: C0272322
Disease: Severe hereditary factor VIII deficiency disease
Severe hereditary factor VIII deficiency disease 		0.100 Biomarker disease BEFREE Safety and efficacy of BAY 94-9027, an extended-half-life factor VIII, during surgery in patients with severe hemophilia A: Results of the PROTECT VIII clinical trial. 31513978 2019
CUI: C0272322
Disease: Severe hereditary factor VIII deficiency disease
Severe hereditary factor VIII deficiency disease 		0.100 Biomarker disease BEFREE The most common of the mutations is an inversion of factor VIII that accounts for nearly 45% of patients with severe hemophilia A. 7728145 1995
CUI: C0272322
Disease: Severe hereditary factor VIII deficiency disease
Severe hereditary factor VIII deficiency disease 		0.100 Biomarker disease BEFREE Amino acid substitutions in conserved domains of factor VIII and related proteins: study of patients with mild and moderately severe hemophilia A. 1301932 1992
CUI: C0272322
Disease: Severe hereditary factor VIII deficiency disease
Severe hereditary factor VIII deficiency disease 		0.100 Biomarker disease BEFREE In this paper we report the molecular characterization of a large deletion that removes the entire Factor VIII gene in a severe hemophilia A patient. 7835884 1994
CUI: C0272322
Disease: Severe hereditary factor VIII deficiency disease
Severe hereditary factor VIII deficiency disease 		0.100 Biomarker disease BEFREE We investigated whether blocking B-cell receptor signaling upon inhibition of Bruton tyrosine kinase prevents anti-factor VIII immune responses in a mouse model of severe hemophilia A. 30545924 2019
CUI: C0272322
Disease: Severe hereditary factor VIII deficiency disease
Severe hereditary factor VIII deficiency disease 		0.100 GeneticVariation disease BEFREE CGA----TGA (Arg----Term) transitions in the factor VIII gene causing severe haemophilia A were detected in two patients at codons 336 and 427 using a combination of oligonucleotide discrimination hybridization and DNA sequencing. 1903760 1991
CUI: C0272322
Disease: Severe hereditary factor VIII deficiency disease
Severe hereditary factor VIII deficiency disease 		0.100 GeneticVariation disease BEFREE Spectrum of factor VIII mutations in Arab patients with severe haemophilia A. 18371166 2008
CUI: C0272322
Disease: Severe hereditary factor VIII deficiency disease
Severe hereditary factor VIII deficiency disease 		0.100 GeneticVariation disease BEFREE HLA genotype of patients with severe haemophilia A due to intron 22 inversion with and without inhibitors of factor VIII. 9157573 1997
CUI: C0272322
Disease: Severe hereditary factor VIII deficiency disease
Severe hereditary factor VIII deficiency disease 		0.100 Biomarker disease BEFREE Treatment of bleeding episodes with recombinant factor VIII Fc fusion protein in A-LONG study subjects with severe haemophilia A. 28220631 2017