OMIA group 2374
Charcot Marie Tooth disease, FGD4-related
The chain reaches the human disease Charcot-Marie-Tooth disease type 4H, which Mondo defines as: “Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy”
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 1 species entry 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 0.75.
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Drugs
Stopped here
No ChEMBL drug acts on a human gene of the group's target evidence.
The chain stopped at Drugs: No ChEMBL drug acts on a human gene of the group's target evidence.
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.
55.2 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.75 | 26.2 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 1 naturally occurring species entry marked as a defect | 4.0 of 10 |
Species
The chain follows only the species entries that OMIA marks as a defect.
| Species | Scientific name | OMIA entry | A defect |
|---|---|---|---|
| domestic cattle | Bos taurus | OMIA:002374-9913 | 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 |
|---|---|---|---|
| domestic cattle | FGD4 FYVE, RhoGEF and PH domain containing 4 NCBI Gene 505234 | FGD4 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: OMIA links the group to no Mondo disease.
- OMIA's OMIM numbers: found a disease.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0012250 | Charcot-Marie-Tooth disease type 4H Charcot-Marie-Tooth disease, type 4H (CMT4H) is a demyelinating CMT peripheral sensorimotor polyneuropathy | OMIA's OMIM numbers |
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 |
|---|---|---|---|---|
| FGD4 | Charcot-Marie-Tooth disease type 4H | 0.75 | 230 | Genetic association 0.84 Genetic literature 0.73 Literature 0.71 Animal model 0.30 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.