Gene: F8 ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 CausalMutation disease CLINVAR
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 Biomarker disease BEFREE Estimation of the titer of procoagulant antihemophilic factor (AHF) and the concentration of AHF-like antigens, as detected by heterologous antiserum, provides a method for diagnosis of the carrier state of classic hemophilia. 851299 1977
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 Biomarker disease BEFREE Carriers of hemophilia can often be detected because their plasmas contain a disproportionately high concentration of antihemophilic factor, measured immunologically, compared with the titer of procoagulant antihemophilic factor. 343683 1978
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease BEFREE Sources of variability in antihemophilic factor (factor VIII) procoagulant titers and precipitating antigen levels among obligate carriers of classic hemophilia. 6783148 1981
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 Biomarker disease CLINGEN Detection and sequence of mutations in the factor VIII gene of haemophiliacs. 2987704 1985
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease UNIPROT Identification of a missense mutation in the factor VIII gene of a mild hemophiliac. 3012775 1986
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease 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 		1.000 Biomarker disease CLINGEN Characterization of five partial deletions of the factor VIII gene. 3035554 1987
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 Biomarker disease BEFREE Hemophilia A is caused by a defect in coagulation factor VIII, a protein that undergoes extensive proteolysis during its activation and inactivation. 3137981 1988
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 Biomarker disease CLINGEN The molecular basis of blood coagulation. 3286010 1988
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 BEFREE The presence and inheritance of restriction fragment length polymorphisms (RFLPs) and gene lesions in the coagulation factor VIII gene were investigated in 15 hemophilia families. 2896159 1988
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		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 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 Biomarker disease BEFREE We have examined the location of epitopes on the FVIII protein for inhibitors from hemophilia A and nonhemophilic individuals. 2477082 1989
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 Biomarker disease BEFREE The presence of gene lesions in coagulation factor VIII (FVIII) gene was investigated in 70 Italian patients severely affected by haemophilia A. cDNA probes specific for exons 14-26 of the FVIII gene were used. 2493803 1989
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease 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 		1.000 GeneticVariation disease UNIPROT Hemophilia A results from mutations in the gene coding for coagulation factor VIII. 2107542 1990
Entrez Id: 2157
Gene Symbol: F8
F8 		1.000 Biomarker disease 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 		1.000 GeneticVariation disease UNIPROT Use of denaturing gradient gel electrophoresis to detect point mutations in the factor VIII gene. 2106480 1990