Comparative

OMIA group 438

Haemophilia B

The chain reaches the human disease hemophilia B, which Mondo defines as: “Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency.”

The chain

From the animal disease to the drugs. The page shows what each step found and where the chain stopped. It does not say whether the animal is a model of a human disease.

  1. Animal disease

    Reached

    OMIA records it in 4 species entries marked as a defect.

  2. Human disease

    Reached

    1 Mondo disease.

  3. Human gene

    Reached

    1 human gene.

  4. Target evidence

    Reached

    1 Open Targets association, with a best score of 0.89.

  5. Drugs

    Reached

    12 ChEMBL drugs, 10 approved. At least one has been tested for this disease.

Natural-model score

How complete and how well supported the chain to each human disease is, out of 100, by stated rules. It does not say that the animal is a validated model of the human disease. How the score works.

hemophilia B

96.0 out of 100

Part Computed from Points
Target evidence Open Targets score of 0.89 31.0 of 35
Drugs A drug has reached approved for this disease 25.0 of 25
Ortholog One to one ortholog 20.0 of 20
Both routes Both routes found this disease 10.0 of 10
Species 3 naturally occurring species entries marked as a defect. 1 genetically engineered entry is not counted 10.0 of 10

Species

The chain follows only the species entries that OMIA marks as a defect.

Species Scientific name OMIA entry A defect
dog Canis lupus familiaris OMIA:000438-9615 Yes
domestic cat Felis catus OMIA:000438-9685 Yes
horse Equus caballus OMIA:000438-9796 Yes
pig Genetically engineered, not naturally occurring. Not counted in the score. Sus scrofa OMIA:000438-9823 Yes

Genes

Each gene OMIA records for a species entry, and the human gene it reaches through Ensembl's orthologs.

Species Animal gene Human gene Ortholog
dog F9 coagulation factor IX NCBI Gene 404015 F9 Ensembl one to one
domestic cat F9 coagulation factor IX NCBI Gene 493973 F9 Ensembl one to one
horse No gene OMIA records no gene for this species entry.
pig No gene OMIA records no gene for this species entry.

Human diseases

Two routes lead from an OMIA group to a Mondo human disease: OMIA's own Mondo link, and the group's OMIM numbers through Mondo's cross-references.

Mondo disease Name Found by
MONDO:0010604 hemophilia B Hemophilia B is a form of hemophilia characterized by spontaneous or prolonged hemorrhages due to factor IX deficiency. Both routes

Target evidence

Each Open Targets association between one of the group's human genes and one of its human diseases, with its overall score and the score for each kind of evidence.

Human gene Human disease Score Evidence Kinds of evidence
F9 hemophilia B 0.89 2,020 Genetic association 0.98 Known drug 0.98 Affected pathway 0.87 Genetic literature 0.77 Literature 0.41

Drugs

A drug acts on F9 and has been tested for this disease.

Drug Acts on How Latest stage Tested for this disease
Albutrepenonacog Alfa F9 exogenous protein Approved Approved for hemophilia B
Coagulation Factor Ix Human F9 exogenous protein Approved Approved for hemophilia B
Coagulation Factor Ix Recombinant Human F9 exogenous protein Approved Approved for hemophilia B
Eftrenonacog Alfa F9 exogenous protein Approved Approved for hemophilia B
Etranacogene Dezaparvovec F9 exogenous protein Approved Approved for hemophilia B
Fidanacogene Elaparvovec F9 exogenous gene Approved Approved for hemophilia B
Nonacog Beta Pegol F9 exogenous protein Approved Approved for hemophilia B
Emicizumab F9 other Approved No
Prothrombin Complex Concentrate F9 exogenous protein Approved No
Valoctocogene Roxaparvovec F9 exogenous protein Approved No
Pegnivacogin F9 inhibitor Phase 3 No
Trenonacog Alfa F9 exogenous protein Phase 3 No

The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.