OMIA group 361
Factor VII deficiency
The chain reaches the human disease congenital factor VII deficiency, which Mondo defines as: “Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor.”
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.
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Animal disease
Reached
OMIA records it in 2 species entries marked as a defect.
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Human disease
Reached
1 Mondo disease.
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Human gene
Reached
1 human gene.
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Target evidence
Reached
1 Open Targets association, with a best score of 0.78.
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Drugs
Reached
6 ChEMBL drugs, 3 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.
84.2 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.78 | 27.2 of 35 |
| Drugs | A drug has reached phase 3 for this disease | 20.0 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | Both routes found this disease | 10.0 of 10 |
| Species | 2 naturally occurring species entries marked as a defect | 7.0 of 10 |
Species
The chain follows only the species entries that OMIA marks as a defect.
| Species | Scientific name | OMIA entry | A defect |
|---|---|---|---|
| Asiatic elephant | Elephas maximus | OMIA:000361-9783 | Yes |
| dog | Canis lupus familiaris | OMIA:000361-9615 | 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 |
|---|---|---|---|
| Asiatic elephant | F7 NCBI Gene 126066453 | Ensembl has no gene cross-references for this species. | |
| dog | F7 coagulation factor VII (serum prothrombin conversion accelerator) NCBI Gene 607661 | F7 Ensembl | one to one |
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.
- OMIA's own Mondo link: found a disease.
- OMIA's OMIM numbers: found a disease.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0009211 | congenital factor VII deficiency Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor. | 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 |
|---|---|---|---|---|
| F7 | congenital factor VII deficiency | 0.78 | 164 | Genetic association 0.87 Genetic literature 0.81 Known drug 0.43 Literature 0.10 |
Drugs
A drug acts on F7 and has been tested for this disease.
| Drug | Acts on | How | Latest stage | Tested for this disease |
|---|---|---|---|---|
| Eptacog Alfa (Activated) | F7 | exogenous protein | Approved | Phase 3 for congenital factor VII deficiency |
| Eptacog Beta (Activated) | F7 | exogenous protein | Approved | No |
| Prothrombin Complex Concentrate | F7 | exogenous protein | Approved | No |
| Pci-27483 | F7 | inhibitor | Phase 2 | No |
| Coagulation Factor Vii Human | F7 | exogenous protein | Unknown | No |
| Eptacog Alfa Pegol (Activated) | F7 | exogenous protein | Unknown | No |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.