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 Biomarker BEFREE It is recommended that each haemophilia centre should ensure that appropriate laboratory assays are available for FVIII and FIX products in local clinical use. 31846168

2020

Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
1.000 Biomarker BEFREE Coagulation factor VIII represents one of the oldest protein-based therapeutics, serving as an effective hemophilia A treatment for half a century. 31454152

2020

Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
1.000 Biomarker BEFREE Integrating genomics, lifestyle and environmental data is expected to be key to: 1) identify which haemophilia patients are less likely to benefit from a given intervention; 2) define optimal dosing and scheduling of bypassing agents (or FVIII) to employ in combination with non-factor products; 3) establish tests to monitor in vivo thrombin generation; 4) improve communication and deliver results to individuals. 31676141

2020

Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
1.000 GeneticVariation BEFREE SUMMARY: Background We have previously demonstrated that von Willebrand factor (VWF) is essential in platelet-specific FVIII (2bF8) gene therapy of hemophilia A (HA) with inhibitory antibodies (inhibitors). 30609275

2019

Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
1.000 GeneticVariation BEFREE Fifty-three haemophilia centres (UK and Scandinavia) performed one-stage FVIII assays and 27 performed chromogenic FVIII assays. 30556650

2019

Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
1.000 Biomarker BEFREE ClotChip T<sub>peak</sub> values correlate very well with ROTEM, TGA and FVIII assays, opening up possibilities for its use in personalized coagulation factor replacement therapy in haemophilia. 31282024

2019

Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
1.000 Biomarker BEFREE Diagnose of hemophilia A was confirmed by coagulation factor VIII (C: FVIII) assay. 31503016

2019

Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
1.000 Biomarker BEFREE During the last decade, new FVIII/IX concentrates have been developed for the treatment of patients affected by hemophilia A/B. 30681006

2019

Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
1.000 Biomarker BEFREE Further elucidation of the shared mechanisms underlying abnormal bone homeostasis in the absence of FVIII or FIX is needed to guide evidence-based approaches to the screening and treatment of the prevalent bone defects in hemophilia A and B. 31594977

2019

Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
1.000 Biomarker BEFREE Induction of activated T follicular helper cells is critical for anti-FVIII inhibitor development in hemophilia A mice. 31648333

2019

Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
1.000 Biomarker BEFREE Haemophilia is a serious inherited bleeding disorder resulting from a deficiency of coagulation factor VIII (haemophilia A) or coagulation factor IX (haemophilia B). 31069799

2019

Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
1.000 Biomarker BEFREE The FVIII CSA-OSA correlation was good in normal (r = 0.8468) and excellent in HA (r = 0.975) and VWD (r = 0.9936). 31271527

2019

Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
1.000 Biomarker BEFREE AHCDC: Association of Hemophilia Clinic Directors of Canada; AICE: Italian Association of Hemophilia Centres; ATHN: American Thrombosis and Hemostasis Network; EAHAD: European Association for Haemophilia and Allied Disorders; EHC: European Hemophilia Consortium; FIX: Coagulation Factor IX; FVIII: Coagulation Factor VIII; HAL: Haemophilia Activity List; HJHS: Haemophilia Joint Health Score; HTC: Hemophilia Treatment Centre; HTCCNC: Hemophilia Treatment Centre Collaborative Network of China; MASAC: Medical and Scientific Advisory Council; MDT: Multidisciplinary team; NHD: National Haemophilia Database; NHF: National Hemophilia Foundation; PK: Pharmacokinetics; POCUS: Point of care ultrasound; PWH: People with haemophilia; SHIELD: Supporting Hemophilia through International Education, Learning and Development; WFH: World Federation of Hemophilia. 30073913

2019

Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
1.000 Biomarker BEFREE Dosing above FVIII target ranges with FVIII concentrates occurs frequently during perioperative treatment of mild HA patients. 31487098

2019

Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
1.000 Biomarker BEFREE Emicizumab, a bispecific humanized monoclonal antibody, bridges activated factor IX (FIX) and FX to restore the function of missing activated FVIII in hemophilia A. Emicizumab prophylaxis in children with hemophilia A and FVIII inhibitors was investigated in a phase 3 trial (HAVEN 2). 31697801

2019

Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
1.000 Biomarker BEFREE Coagulation factor VIII and IX products constitute 32% of the BLAs and indicated for treatment of haemophilia A and B, respectively. 31131515

2019

Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
1.000 GeneticVariation BEFREE Here, we report a universal approach to correct the various mutations in HA patient iPSCs by the targeted insertion of the FVIII gene into the human H11 site via CRISPR/Cas9. 31105049

2019

Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
1.000 Biomarker BEFREE Gene-deletion of PZ or ZPI improves coagulation in hemophilia (FVIII knockout) mice. 30451376

2019

Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
1.000 AlteredExpression BEFREE Encouraging clinical progresses have been also obtained from trials of gene therapy for haemophilia A. Transgene expression persisted for three years with circulating FVIII activity levels of 52.3% in patients treated with AAV vector containing a codon-optimized F8 cDNA. 31282050

2019

Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
1.000 Biomarker BEFREE The K coefficient was 0.91 when BIOPHEN™ FVIII:C was compared with the historical classification of the patients, demonstrating an optimal diagnostic accuracy in HA. 31044485

2019

Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
1.000 Biomarker BEFREE The formation of neutralizing antibodies (FVIII inhibitors) in haemophilia A patients is an immune response to the deficient factor. 31149782

2019

Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
1.000 Biomarker BEFREE The current interest in recombinant factor VIII (rFVIII) products stems from the fact that they offer a technological solution to prolonging the half-life of and reducing the risk of formation of alloantibodies (inhibitors) against FVIII in treated patients with hemophilia A (HA). 31850352

2019

Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
1.000 Biomarker BEFREE Here, hemophilia A (factor VIII-deficient; FVIII-deficient) mice or TAFI-deficient mice with transient (antibody-induced) hemophilia A were used to determine the role of FVIII and TAFI in vascular remodeling after joint bleeding. 31465300

2019

Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
1.000 GeneticVariation BEFREE Health-related quality-of-life and treatment satisfaction of individuals with hemophilia A treated with turoctocog alfa pegol (N8-GP): a new recombinant extended half-life FVIII. 31040652

2019

Entrez Id: 2157
Gene Symbol: F8
F8
CUI: C0019069
Disease: Hemophilia A
Hemophilia A
1.000 Biomarker BEFREE This scenario is further complicated in the presence of nucleotide changes associated with FVIII deficiency (Haemophilia A), which weaken the authentic 5'ss and create/strengthen cryptic 5'ss. 31649737

2019