OMIA group 2455
Fragile X syndrome, FMR1-related
The chain reaches the human disease fragile X syndrome, which Mondo defines as: “A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities.”
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 0.80.
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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.
57.2 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.80 | 28.2 of 35 |
| Drugs | A drug has reached phase 3 for this disease | 20.0 of 25 |
| Ortholog | No gene of a naturally occurring entry reaches a human gene | 0.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 1 naturally occurring species entry marked as a defect. 1 genetically engineered entry is 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 |
|---|---|---|---|
| chicken | Gallus gallus | OMIA:002455-9031 | Yes |
| white-tufted-ear marmoset Genetically engineered, not naturally occurring. Not counted in the score. | Callithrix jacchus | OMIA:002455-9483 | 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 |
|---|---|---|---|
| chicken | No gene | OMIA records no gene for this species entry. | |
| white-tufted-ear marmoset | FMR1 fragile X mental retardation 1 NCBI Gene 100414871 | FMR1 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:0010383 | fragile X syndrome A genetic syndrome caused by mutations in the FMR1 gene which is responsible for the expression of the fragile X mental retardation 1 protein. This protein participates in neural development. This syndrome is manifested with mental, emotional, behavioral, physical, and learning disabilities. | 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 |
|---|---|---|---|---|
| FMR1 | fragile X syndrome | 0.80 | 4,224 | Literature 0.99 Genetic association 0.86 Genetic literature 0.72 Animal model 0.32 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.