OMIA group 1508
Myotubular myopathy 1
The chain reaches the human disease X-linked myotubular myopathy, which Mondo defines as: “A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure.”
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 0.86.
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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.
79.7 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.86 | 30.2 of 35 |
| Drugs | A drug has reached phase 1/2 for this disease | 12.5 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 |
|---|---|---|---|
| dog | Canis lupus familiaris | OMIA:001508-9615 | Yes |
| domestic cat | Felis catus | OMIA:001508-9685 | 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 | MTM1 myotubularin 1 NCBI Gene 612385 | MTM1 Ensembl | one to one |
| domestic cat | MTM1 myotubularin 1 NCBI Gene 101093757 | MTM1 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:0010683 | X-linked myotubular myopathy A rare X-linked congenital myopathy characterized by numerous centrally placed nuclei on muscle biopsy and that presents at birth with marked weakness, hypotonia and respiratory failure. | 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 |
|---|---|---|---|---|
| MTM1 | X-linked myotubular myopathy | 0.86 | 1,094 | Genetic association 0.95 Literature 0.84 Genetic literature 0.81 Animal model 0.28 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.