COX8A, cytochrome c oxidase subunit 8A, 1351

N. diseases: 526; N. variants: 2
Disease: Mild hereditary factor VIII deficiency disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0272324
Disease: Mild hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease 		0.100 AlteredExpression disease BEFREE Current dosing practices for perioperative factor VIII concentrate treatment in mild haemophilia A patients result in FVIII levels above target. 31487098 2019
CUI: C0272324
Disease: Mild hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease 		0.100 Biomarker disease BEFREE The chromogenic factor VIII assay is used in some specialized hemophilia reference centers and is recommended for the diagnosis of mild hemophilia A, as this assay is considered to better reflect the severity status of hemophilia patients than the one-stage assay. 28804835 2017
CUI: C0272324
Disease: Mild hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease 		0.100 GeneticVariation disease BEFREE Identification and characterization of an adenine to guanine transition within intron 10 of the factor VIII gene as a causative mutation in a patient with mild haemophilia A. 22776136 2013
CUI: C0272324
Disease: Mild hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease 		0.100 GeneticVariation disease BEFREE Factor VIII mutation and desmopressin-responsiveness in 62 patients with mild haemophilia A. 23711294 2013
CUI: C0272324
Disease: Mild hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease 		0.100 AlteredExpression disease BEFREE Prevalence, biological phenotype and genotype in moderate/mild hemophilia A with discrepancy between one-stage and chromogenic factor VIII activity. 21166991 2011
CUI: C0272324
Disease: Mild hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease 		0.100 GeneticVariation disease BEFREE To analyze factor VIII gene (F8) mRNA for mutations in five families with mild hemophilia A with no apparent genomic mutation and a reduced response to desmopressin. 21689372 2011
CUI: C0272324
Disease: Mild hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease 		0.100 GeneticVariation disease BEFREE HLA-DR-restricted T-cell responses to factor VIII epitopes in a mild haemophilia A family with missense substitution A2201P. 20536985 2010
CUI: C0272324
Disease: Mild hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease 		0.100 Biomarker disease BEFREE Factor VIII-von Willebrand factor binding defects in autosomal recessive von Willebrand disease type Normandy and in mild hemophilia A. New insights into factor VIII-von Willebrand factor interactions. 19506355 2009
CUI: C0272324
Disease: Mild hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease 		0.100 GeneticVariation disease BEFREE Tyr346-->Cys mutation results in factor VIII:C assay discrepancy and a normal bleeding phenotype - is this mild haemophilia A? 18034822 2008
CUI: C0272324
Disease: Mild hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease 		0.100 GeneticVariation disease BEFREE Two molecular changes in the promoter region of the factor VIII gene (c.-112G>A and -219C>T), affecting the core segment (minimal promoter) were detected in two patients with mild hemophilia A. 16972227 2007
CUI: C0272324
Disease: Mild hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease 		0.100 AlteredExpression disease BEFREE In vitro kinetics of factor VIII activity in patients with mild haemophilia A and a discrepancy between one-stage and two-stage factor VIII assay results. 17222201 2007
CUI: C0272324
Disease: Mild hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease 		0.100 AlteredExpression disease BEFREE Normalization of factor VIII levels in a patient with mild haemophilia A during a 35-year period. 17083519 2006
CUI: C0272324
Disease: Mild hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease 		0.100 AlteredExpression disease BEFREE Exon skipping partially restores factor VIII coagulant activity in patients with mild hemophilia A with exon 13 duplication. 15996947 2005
CUI: C0272324
Disease: Mild hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease 		0.100 GeneticVariation disease BEFREE A rearrangement of exon 13 in the factor VIII gene has been identified as the causative mutation in 32% of Northern Italian patients with mild hemophilia A. 15194549 2004
CUI: C0272324
Disease: Mild hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease 		0.100 GeneticVariation disease BEFREE HLA class II genotype and factor VIII inhibitors in mild haemophilia A patients with an Arg593 to Cys mutation. 15357778 2004
CUI: C0272324
Disease: Mild hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease 		0.100 GeneticVariation disease BEFREE Factor VIII inhibitor in a patient with mild haemophilia A and an Asn618-->Ser mutation responsive to immune tolerance induction and cyclophosphamide. 11918545 2002
CUI: C0272324
Disease: Mild hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease 		0.100 GeneticVariation disease BEFREE We characterized anti-factor VIII antibodies in a mild haemophilia A patient with an Arg593-->Cys mutation in the A2 domain, using V gene phage-display technology. 12406075 2002
CUI: C0272324
Disease: Mild hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease 		0.100 GeneticVariation disease BEFREE A mild haemophilia A (factor VIII [FVIII] 10%) was discovered in a 73-year-old man during the preoperative haemostasis tests before a total knee arthroplasty for treatment of degenerative senile arthropathy. 11442647 2001
CUI: C0272324
Disease: Mild hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease 		0.100 GeneticVariation disease BEFREE The valve defect cosegregated with mild hemophilia A (F.VIII activity = 0.32 +/- 0.05). 10841240 2000
CUI: C0272324
Disease: Mild hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease 		0.100 GeneticVariation disease BEFREE Intracellular accumulation and subsequent degradation of factor VIII-R593C and factor VIII-N618S may explain the reduced levels of both factor VIII activity and antigen in plasma of mild haemophilia A patients with corresponding genetic defects. 10691849 2000
CUI: C0272324
Disease: Mild hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease 		0.100 GeneticVariation disease BEFREE The factor VIII gene mutation led to a mild haemophilia A phenotype with factor VIII function displaying discordance between one-stage clotting and chromogenic two-stage assays. 10886198 2000
CUI: C0272324
Disease: Mild hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease 		0.100 Biomarker disease BEFREE Antifactor VIII antibody inhibiting allogeneic but not autologous factor VIII in patients with mild hemophilia A. 10090936 1999
CUI: C0272324
Disease: Mild hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease 		0.100 GeneticVariation disease BEFREE Substitution of Arg527 and Arg531 in factor VIII associated with mild haemophilia A: characterization in terms of subunit interaction and cofactor function. 10468875 1999
CUI: C0272324
Disease: Mild hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease 		0.100 GeneticVariation disease BEFREE Longitudinal analysis of factor VIII inhibitors in a previously untreated mild haemophilia A patient with an Arg593-->Cys substitution. 10365744 1999
CUI: C0272324
Disease: Mild hereditary factor VIII deficiency disease
Mild hereditary factor VIII deficiency disease 		0.100 GeneticVariation disease BEFREE 3' end of exon 14 of F VIII gene from a mild hemophilia A patient of Chinese origin was amplified by polymerase chain reaction (PCR) and identified mutations by denaturing gradient gel electrophoresis (DGGE) combining with direct sequencing. 9594277 1997