Gene: F8 ×
Source: CURATED ×
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease UNIPROT This patient was previously assumed to be a carrier of haemophilia A due to her FVIII deficiency. 12406074 2002
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease UNIPROT Identification of mutations in two families with sporadic hemophilia A. 1908817 1991
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease UNIPROT To study genotype and phenotype correlation of haemophilia A in Thai patients, molecular defects of the factor VIII (FVIII) gene were examined and their correlation with clinical phenotypes were evaluated. 12614369 2003
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease UNIPROT Hemophilia A is a bleeding disorder caused by a quantitative or qualitative deficiency in the coagulation factor VIII. 11857744 2002
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease UNIPROT Small FVIII gene rearrangements in 18 hemophilia A patients: five novel mutations. 15682412 2005
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease UNIPROT Mutations in a subgroup of patients with mild haemophilia A and a familial discrepancy between the one-stage and two-stage factor VIII:C methods. 8759905 1996
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease UNIPROT Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP). 1639429 1992
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease UNIPROT Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene. 2106480 1990
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease UNIPROT Each novel missense mutation occurred at a highly conserved residue, no other candidate mutation was detected on screening the entire coding region of the FVIII gene and they were not detected in a screen of individuals without haemophilia A. 15810915 2005
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease UNIPROT A novel missense mutation in exon 4 of the factor VIII:C gene resulting in moderately severe hemophilia A. 2510835 1989
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease UNIPROT Diagnostic importance of the two-stage factor VIII:C assay demonstrated by a case of mild haemophilia associated with His1954-->Leu substitution in the factor VIII A3 domain. 10554831 1999
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease UNIPROT Factor VIII Antigen, Activity, and Mutations in Hemophilia A. 25550078 2016
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease UNIPROT Purification and characterization of factor VIII 1,689-Cys: a nonfunctional cofactor occurring in a patient with severe hemophilia A. 2499363 1989
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease UNIPROT Identification of factor VIII gene mutations in patients with severe haemophilia A in Venezuela: identification of seven novel mutations. 21371196 2011
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease UNIPROT Intracellular accumulation of factor VIII induced by missense mutations Arg593-->Cys and Asn618-->Ser explains cross-reacting material-reduced haemophilia A. 10691849 2000
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease UNIPROT A novel cause of mild/moderate hemophilia A: mutations scattered in the factor VIII C1 domain reduce factor VIII binding to von Willebrand factor. 10910910 2000
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease UNIPROT Detection of mutations in ectopic factor VIII transcripts from nine haemophilia A patients and the correlation with phenotype. 7759074 1995
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease UNIPROT Nonsense and missense mutations in hemophilia A: estimate of the relative mutation rate at CG dinucleotides. 2833855 1988
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease UNIPROT Moderately severe hemophilia A resulting from Glu----Gly substitution in exon 7 of the factor VIII gene. 2835904 1988
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease UNIPROT Lithuanian haemophilia A and B registry comprising phenotypic and genotypic data. 11298607 2001
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease UNIPROT Hemophilia A is a common X-linked bleeding disorder caused by mutations in the coagulation factor VIII gene. 10612839 2000
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease UNIPROT Analysis of 18 novel mutations in the factor VIII gene. 12930394 2003
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease UNIPROT Hemophilia A is an X-linked bleeding disease caused by mutations in the coagulation factor VIII gene. 10408784 1999
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease UNIPROT Mild haemophilia A discovered in a previously multi-operated 73-year-old man: characterization of a new mutation. 11442647 2001
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease UNIPROT Our objective was to identify defects in the gene of FVIII by a sensitive and simple scanning technique with high throughput in order to study molecular mechanisms by which novel amino acid substitutions may lead to hemophilia A. 12871415 2003