Source: LHGDN

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation LHGDN Identification of 217 unreported mutations in the F8 gene in a group of 1,410 unselected Italian patients with hemophilia A. 18217193

2008
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation LHGDN Characterization of a causative mutation of hemophilia A identified in the promoter region of the factor VIII gene (F8). 17944985

2008
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation LHGDN Detection of large duplications within the factor VIII gene by MLPA. 18752578

2008
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation LHGDN Identification of 31 novel mutations in the F8 gene in Spanish hemophilia A patients: structural analysis of 20 missense mutations suggests new intermolecular binding sites. 18184865

2008
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation LHGDN Founder haplotype associated with the factor VIII Asp1241Glu polymorphism in a cohort of mild hemophilia A patients. 18419741

2008
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 AlteredExpression LHGDN Factor VIII-specific memory B cells in patients with hemophilia A. 17958750

2007
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation LHGDN [Application study on inversion diagnosis of F8 gene in hemophilia A]. 17680530

2007
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation LHGDN Haemophilia A in a female caused by coincidence of a Swyer syndrome and a missense mutation in factor VIII gene. 16601852

2006
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation LHGDN Detection of 95 novel mutations in coagulation factor VIII gene F8 responsible for hemophilia A: results from a single institution. 16786531

2006
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation LHGDN The spectrum of mutations in Southern Spanish patients with hemophilia A and identification of 28 novel mutations. 15921397

2005
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation LHGDN In fact, our results point to the presence of still unknown factor(s) causing HA, which might be either allelic or in the close proximity of the FVIII gene or non-allelic associated with other genetic loci that are involved in the processing of the FVIII protein. 15670040

2005
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation LHGDN Spectrum of molecular defects and mutation detection rate in patients with severe hemophilia A. 16086318

2005
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 Biomarker LHGDN Epitope repertoire of human CD4(+) T cells on the A3 domain of coagulation factor VIII. 15304045

2004
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation LHGDN The factor VIII gene intron 1 inversion mutation: prevalence in severe hemophilia A patients in the UK. 14717992

2004
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 Biomarker LHGDN Reduction of the inhibitory antibody response to human factor VIII in hemophilia A mice by mutagenesis of the A2 domain B-cell epitope. 15073030

2004
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation LHGDN The disease is caused by FVIII gene intron 22 inversion in approximately 50% of the patients, and by intron 1 inversion in 5% of the patients with severe HA. 12857556

2003
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation LHGDN FVIII(WT) and FVIII(Arg562Ala) showed catalytic rate constant (k(cat)) values of approximately 60 minute(-1) in the presence of phospholipid, whereas the hemophilia A-associated mutants showed k(cat) values ranging from 3.3 minute(-1) to 7.5 minute(-1). 12091341

2002
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation LHGDN This mechanism, commonly related to genetic human disorders, may be involved in a significant number of hemophilia cases considering that FVIII is coded by an Alu-rich gene. 12154809

2002
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation LHGDN Identification of seven novel mutations of F8C by DHPLC. 12203998

2002
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation LHGDN A founder factor VIII mutation, valine 2016 to alanine, in a population with an extraordinarily high prevalence of mild hemophilia A. 11848452

2002
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation LHGDN Prevalence of small rearrangements in the factor VIII gene F8C among patients with severe hemophilia A. 12204009

2002
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation LHGDN Intron factor VIII gene inversion in a population of Italian hemophilia A patients. 12412575

2002
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation LHGDN Non-inversion factor VIII mutations in 80 hemophilia A families including 24 with alloimmune responses. 11858487

2002