OMIA group 2406
Rett syndrome, MECP2-related
The chain reaches the human disease Rett syndrome, which Mondo defines as: “A severe neurodevelopmental disorder affecting the central nervous system.”
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 3 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 0.88.
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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.
84.9 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.88 | 30.9 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 | One route found this disease | 5.0 of 10 |
| Species | 1 naturally occurring species entry marked as a defect. 2 genetically engineered entries are not counted | 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 |
|---|---|---|---|
| crab-eating macaque Genetically engineered, not naturally occurring. Not counted in the score. | Macaca fascicularis | OMIA:002406-9541 | Yes |
| Rhesus monkey | Macaca mulatta | OMIA:002406-9544 | Yes |
| white-tufted-ear marmoset Genetically engineered, not naturally occurring. Not counted in the score. | Callithrix jacchus | OMIA:002406-9483 | 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 |
|---|---|---|---|
| crab-eating macaque | MECP2 methyl-CpG binding protein 2 NCBI Gene 102135563 | MECP2 Ensembl | one to one |
| Rhesus monkey | MECP2 methyl-CpG binding protein 2 NCBI Gene 700174 | MECP2 Ensembl | one to one |
| white-tufted-ear marmoset | MECP2 methyl-CpG binding protein 2 NCBI Gene 100411889 | MECP2 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:0010726 | Rett syndrome A severe neurodevelopmental disorder affecting the central nervous system. | 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 |
|---|---|---|---|---|
| MECP2 | Rett syndrome | 0.88 | 4,583 | Literature 0.95 Genetic association 0.95 Affected pathway 0.89 Genetic literature 0.82 Animal model 0.56 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.