Source: CURATED

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 Biomarker CLINGEN We report the case of a female HA patient with a moderate decrease of factor (F) VIII activity and antigen (FVIII:C 3.4%, FVIII:Ag 4.2%) and severe bleeding symptoms. 16805874

2006
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 Biomarker CLINGEN Characteristic mRNA abnormality found in half the patients with severe haemophilia A is due to large DNA inversions. 8281136

1993
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 Biomarker CLINGEN In a patient with mild HA we detected a duplication of exon 13, which is a rearrangement not yet described within the FVIII gene. 2105106

1990
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 Biomarker CLINGEN The molecular basis of blood coagulation. 3286010

1988
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 Biomarker CLINGEN Characterization of five partial deletions of the factor VIII gene. 3035554

1987
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 Biomarker CLINGEN : Defects in the coagulation factor VIII gene cause haemophilia A, which is the most common X-linked recessive bleeding disorder. 28252515

2017
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 Biomarker CLINGEN Haemophilia A is a classic X-linked disease which affects 1 in 5-10,000 males in all populations and is caused by defects in coagulation factor VIII. 7647782

1995
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 Biomarker CLINGEN Detection and sequence of mutations in the factor VIII gene of haemophiliacs. 2987704

1985
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 Biomarker CLINGEN Mutational Profiles of F8 and F9 in a Cohort of Haemophilia A and Haemophilia B Patients in the Multi-ethnic Malaysian Population. 30210749

2018
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 Biomarker CLINGEN Assay discrepancy in mild haemophilia A due to a factor VIII missense mutation (Asn694Ile) in a large Danish family. 10886198

2000
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 Biomarker CLINGEN Phenotype correction of hemophilia A mice by spliceosome-mediated RNA trans-splicing. 12847523

2003
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 Biomarker GENOMICS_ENGLAND 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 UNIPROT Experience of a single Italian center in genetic counseling for hemophilia: from linkage analysis to molecular diagnosis. 10800171

2000
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation UNIPROT Precise carrier diagnosis in families with haemophilia A: use of conformation sensitive gel electrophoresis for mutation screening and polymorphism analysis. 9569180

1998
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation UNIPROT Independent occurrence of the novel Arg2163 to His mutation in the factor VIII gene in three unrelated families with haemophila A with different phenotypes. Mutations in brief no. 126. Online. 10215414

1998
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation UNIPROT Mild hemophilia A resulting from Arg-to-Leu substitution in exon 26 of the factor VIII gene. 2495245

1989
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation UNIPROT Eleven novel mutations in the factor VIII gene from Brazilian hemophilia A patients. 7579394

1995
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation UNIPROT A review of the literature and the assay of FVIII antigen in 5 hemophilia A patients with previously identified missense mutations from this laboratory yielded a total of 20 other unique CRM-reduced and CRM-positive mutations. 8449505

1993
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation UNIPROT We report the case of a female HA patient with a moderate decrease of factor (F) VIII activity and antigen (FVIII:C 3.4%, FVIII:Ag 4.2%) and severe bleeding symptoms. 16805874

2006
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation UNIPROT Molecular pathology of haemophilia A in Turkish patients: identification of 36 independent mutations. 11554935

2001
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation UNIPROT To determine if human point mutations could be detected using denaturing gradient gels (DGG blots), genomic DNA samples from hemophilia A families were analyzed for mutations in the factor VIII (FVIII) gene. 9829908

1998
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation UNIPROT A domain mutations in 65 haemophilia A families and molecular modelling of dysfunctional factor VIII proteins. 9886318

1998
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation UNIPROT Rapid hemophilia A molecular diagnosis by a simple DNA sequencing procedure: identification of 14 novel mutations. 11341489

2001
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation UNIPROT A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences. 3122181

1987
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation UNIPROT Mild hemophilia A patient with novel Pro1809Leu mutation develops an anti-C2 antibody inhibiting allogeneic but not autologous factor VIII activity. 26278069

2015