Source: BEFREE

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 Biomarker BEFREE <b>Objective:</b> An extended half-life factor IX (FIX) fusion protein linking recombinant FIX with recombinant human albumin (rIX-FP), indicated for the treatment of hemophilia B, was approved by the European Medicines Agency in May 2016. 31469321

2020

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation BEFREE 52 kindreds, referred to as haemophilia B-, were characterized by severe deficiency of factor IX coagulant activity (less than 0.01--0.03 u/ml) and unmeasurable IX:Ag (less than 0.12 u/ml): this genetic variant of the disease appears to be related to a complete or marked suppression of factor IX synthesis. 103564

1978

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation BEFREE 5: hemophilia B, Arg333Stop) showed a decrease in their activated partial thromboplastin time (aPTT), an increase in their FVIII (0.016 IU/mL, 1.6%) or FIX (0.02 IU/mL, 2%) levels, and an increase in thrombin generation.The remaining 3 patients (patient no. 16051741

2005

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 Biomarker BEFREE 70 million IU of FIX for hemophilia B patients. 28335488

2017

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 Biomarker BEFREE : Risk for thrombotic events with factor IX replacement therapy in patients with haemophilia B remains a concern for patients, those who treat them, and regulatory agencies, based on experience with early use of prothrombin complex concentrates. 29135476

2018

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation BEFREE Hemophilia B with mutations at glycine-48 of factor IX exhibited delayed activation by the factor VIIa-tissue factor complex. 11057861

2000

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 Biomarker BEFREE Haemophilia B is an inherited bleeding disorder associated with a deficiency of coagulation factor IX. 16086639

2005

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation BEFREE Hemophilia B is a useful model for studying the underlying pattern of recent germline mutations in humans because the observed pattern of mutation in factor IX more closely reflects the underlying pattern of mutation than the observed pattern for many other genes. 1634040

1992

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 Biomarker BEFREE Hemophilia B dogs that achieved 942+/-500 ng/ml (19% normal) or 5+/-0.4 ng/ml (0.1% normal) of human Factor IX in plasma only bled 0 or 1.2 times per year, respectively, and were tolerant to infusion of human Factor IX. 17095052

2007

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation BEFREE Hemophilia B (HB) is an X-linked recessively inherited bleeding disorder caused by heterogeneous mutations in the factor IX gene. 19262239

2009

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation BEFREE Haemophilia B Leyden arising de novo by point mutation in the putative factor IX promoter region. 2004020

1991

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 Biomarker BEFREE Hemophilia B management would benefit from a FIX protein with an extended half-life. 20056791

2010

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 AlteredExpression BEFREE Hemophilia B is a hereditary bleeding disorder from the deficiency of factor IX (FIX) activity. 20305539

2010

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 AlteredExpression BEFREE Haemophilia B and inbred C57Bl/6 mice injected with different doses of virus particles carrying FIX-WT or FIX-Triple and expressing up to a nearly 13-fold excess (1289% of normal) of FIX clotting activity did not show increased risk of thrombosis compared with untreated wild-type mice in a normal haemostatic state. 20539913

2010

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation BEFREE Hemophilia B (HB) is a disorder resulting from genetic mutations in the Factor 9 gene (F9). 24375831

2014

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 AlteredExpression BEFREE Hemophilia B prophylaxis targets plasma FIX levels > 1% but neglects extravascular FIX, which colocalizes with antithrombin-heparan sulfate. 25851619

2015

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation BEFREE Hemophilia B (HB) is an X-linked recessive bleeding disorder caused by mutations in the coagulation factor IX (FIX) gene. 27109384

2016

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 Biomarker BEFREE Hemophilia B Kashihara is a severe hemorrhagic disorder in which the factor IX antigen is present in normal amounts but factor IX biological activity is markedly reduced. 2753873

1989

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation BEFREE Hemophilia B (factor IXSeattle 2) due to a single nucleotide deletion in the gene for factor IX. 2821070

1987

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 Biomarker BEFREE Hemophilia B (HB) is an X-linked disorder caused by defects of F9 encoded coagulation factor IX, which is an ideal model for gene therapy. 28508290

2017

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 Biomarker BEFREE Hemophilia B is an X linked recessive deficiency of factor IX that presents with a range of clinical severity that co-relates with factor levels. 30795708

2019

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation BEFREE Hemophilia B Durham: a mutation in the first EGF-like domain of factor IX that is characterized by polymerase chain reaction. 3262389

1988

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 Biomarker BEFREE Hemophilia B is an X-chromosomal recessive disease due to deficiency of coagulation factor IX. 3873655

1985

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 GeneticVariation BEFREE Haemophilia B (Christmas disease) is an inherited, recessive, sex-linked, haemorrhagic condition caused by a defect in the intrinsic clotting factor IX. 4033760

1985

Entrez Id: 2158
Gene Symbol: F9
F9
CUI: C0008533
Disease: Hemophilia B
Hemophilia B
1.000 Biomarker BEFREE Hemophilia B Chapel Hill is a mild hereditary hemorrhagic disorder in which the factor IX antigen is present in normal amounts but factor IX biological activity is markedly reduced. 6603618

1983