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 GeneticVariation UNIPROT A novel mutation (Arg-->Leu in exon 18) in factor VIII gene responsible for moderate hemophilia A. 1301194

1992
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation UNIPROT Mutations leading to hemophilia A by substitution of amino acids in coagulation factor VIII may provide important clues to the structure and function of this large and enigmatic protein. 1301932

1992
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation UNIPROT Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis. 1301960

1992
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation UNIPROT Screening for nonsense mutations in patients with severe hemophilia A can provide rapid, direct carrier detection. 1349567

1992
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation UNIPROT GAA(Glu)272----AAA(Lys) and CGA(Arg)1941----CAA(Gln) in the factor VIII gene in two haemophilia A patients of Czech origin. 1356412

1992
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation UNIPROT Detection of mutations in the factor VIII gene using single-stranded conformational polymorphism (SSCP). 1639429

1992
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation UNIPROT Detection and characterisation of two missense mutations at a cleavage site in the factor VIII light chain. 1851341

1991
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation UNIPROT 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
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation UNIPROT Identification of mutations in two families with sporadic hemophilia A. 1908817

1991
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation UNIPROT CRM+ haemophilia A due to a missense mutation (372----Cys) at the internal heavy chain thrombin cleavage site. 1973901

1990
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation UNIPROT Characterization of a thrombin cleavage site mutation (Arg 1689 to Cys) in the factor VIII gene of two unrelated patients with cross-reacting material-positive hemophilia A. 2104766

1990
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 GeneticVariation UNIPROT 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 GeneticVariation UNIPROT Characterization of mutations in the factor VIII gene by direct sequencing of amplified genomic DNA. 2105906

1990
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation 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
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation UNIPROT Hemophilia A results from mutations in the gene coding for coagulation factor VIII. 2107542

1990
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 Direct characterization of factor VIII in plasma: detection of a mutation altering a thrombin cleavage site (arginine-372----histidine). 2498882

1989
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation 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
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation UNIPROT An arginine to cysteine amino acid substitution at a critical thrombin cleavage site in a dysfunctional factor VIII molecule. 2506948

1989
Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation 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
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation 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
CUI: C0019069
Disease: Hemophilia A
Hemophilia A 		1.000 GeneticVariation 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
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 GeneticVariation UNIPROT Identification of a missense mutation in the factor VIII gene of a mild hemophiliac. 3012775

1986