Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation UNIPROT Genetic determinants of immunogenicity to factor IX during the treatment of haemophilia B. 25470321

2015

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation UNIPROT Molecular characterization of haemophilia B (HB) at the factor IX gene (F9) is essential to establish diagnosis, confirm genotype-phenotype correlations and to advise in genetic counselling. 25251685

2014

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation UNIPROT Molecular analyses in hemophilia B families: identification of six new mutations in the factor IX gene. 12604421

2003

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation UNIPROT In this study, a more comprehensive analysis of the molecular pathology of haemophilia B in Turkey revealed one large deletion and 33 point mutations in the FIX gene of 34 unrelated patients. 12588353

2003

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation UNIPROT Factor IX gene sequencing by a simple and sensitive 15-hour procedure for haemophilia B diagnosis: identification of two novel mutations. 11122099

2000

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation UNIPROT Molecular analysis of hemophilia B in Poland: 12 novel mutations of the factor IX gene. 10698280

1999

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation UNIPROT In this study we have analyzed the factor IX gene from 84 hemophilia B patients of Spanish origin. 10094553

1999

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation UNIPROT Five novel factor IX mutations in unrelated hemophilia B patients. 9452115

1998

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation UNIPROT A novel missense mutation (codon 351, GCT (Ala) --> CCT (Pro)) of the FIX gene was characterised in a young female with mild hemophilia B. 9590153

1998

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation UNIPROT To determine if the factor IX (FIX) germline mutational pattern in AmerIndians differs from the common and putative endogenous pattern, FIX gene mutations were characterized in an initial sample of 10 AmerIndian Peruvian patients with hemophilia B. 9600455

1998

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation UNIPROT Modification of the N-terminus of human factor IX by defective propeptide cleavage or acetylation results in a destabilized calcium-induced conformation: effects on phospholipid binding and activation by factor XIa. 9169594

1997

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation UNIPROT Mutations associated with hemophilia B in Turkish patients. 9222764

1997

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation UNIPROT Twenty-five novel mutations of the factor IX gene in haemophilia B. 8680410

1995

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation UNIPROT A novel mutation (Val-373 to Glu) in the catalytic domain of factor IX, resulting in moderately/severe hemophilia B in a southern French patient. 8199596

1994

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation UNIPROT We conclude that this method can be advantageously used for diagnosis purposes in a routine laboratory involved in haemophilia B diagnosis and report nine previously undescribed haemophilia B families with their factor IX mutation. 8076946

1994

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation UNIPROT Identification of mutations in four hemophilia B patients of Turkish origin, including a novel deletion of base 6411. 7981722

1994

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation UNIPROT In the present study, we report the application of polymerase chain reaction-single-strand conformation polymorphism (PCR-SSCP) analysis to the screening of seven functionally important factor IX gene (FIX) regions (total length 2.66 kb) in 9 unrelated haemophilia B patients of Portuguese or African origin. 8257988

1993

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation UNIPROT We have characterized at the DNA and protein levels a mutant factor IX, factor IX Strasbourg 2, which is responsible for a severe form (< 0.01 U/ml) of haemophilia B. 8295821

1993

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation UNIPROT This patient also developed an antibody to factor IX during replacement therapy, which suggests that deletion of the factor IX gene is not necessary for development of the antibody in hemophilia B patients. 1346975

1992

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation UNIPROT Characterization of the original Christmas disease mutation (cysteine 206----serine): from clinical recognition to molecular pathogenesis. 1615485

1992

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation UNIPROT Isoleucine397 is changed to threonine in two females with hemophilia B. 1902289

1991

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation UNIPROT Factor IX Amagasaki: a new mutation in the catalytic domain resulting in the loss of both coagulant and esterase activities. 1958666

1991

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation UNIPROT A mutation adjacent to the beta cleavage site of factor IX (valine 182 to leucine) results in mild haemophilia Bm. 2372509

1990

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation UNIPROT Factor IX Chongqing: a new mutation in the calcium-binding domain of factor IX resulting in severe hemophilia B. 2339358

1990

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation UNIPROT Mutations in hemophilia Bm occur at the Arg180-Val activation site or in the catalytic domain of factor IX. 2162822

1990