OMIA group 2887
Ectodermal dysplasia, EDARADD-related
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
2 Mondo diseases.
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Human gene
Stopped here
No gene of a species entry marked as a defect reaches a human gene through Ensembl's orthologs.
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Target evidence
Not reached
The chain stopped before this step.
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Drugs
Not reached
The chain stopped before this step.
The chain stopped at Human gene: No gene of a species entry marked as a defect reaches a human gene through Ensembl's orthologs.
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.
| Part | Computed from | Points |
|---|---|---|
| Target evidence | No Open Targets association with this disease | 0.0 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 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 | 0 naturally occurring species entries marked as a defect. 2 genetically engineered entries are not counted | 0.0 of 10 |
| Part | Computed from | Points |
|---|---|---|
| Target evidence | No Open Targets association with this disease | 0.0 of 35 |
| Drugs | No drug has been tested for this disease, and none acts on its genes | 0.0 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 | 0 naturally occurring species entries marked as a defect. 2 genetically engineered entries are not counted | 0.0 of 10 |
Species
The chain follows only the species entries that OMIA marks as a defect.
| Species | Scientific name | OMIA entry | A defect |
|---|---|---|---|
| Aphanius dispar Genetically engineered, not naturally occurring. Not counted in the score. | Aphanius dispar | OMIA:002887-37268 | Yes |
| mangrove rivulus Genetically engineered, not naturally occurring. Not counted in the score. | Kryptolebias marmoratus | OMIA:002887-37003 | Yes |
| Pantherophis guttatus Naturally occurring, and also genetically engineered. | Pantherophis guttatus | OMIA:002887-94885 | Unknown, not counted |
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 |
|---|---|---|---|
| Aphanius dispar | edaradd EDAR-associated death domain | No NCBI Gene identifier in OMIA. | |
| mangrove rivulus | edaradd EDAR-associated death domain NCBI Gene 108239174 | No human ortholog in Ensembl. | |
| Pantherophis guttatus Not a defect, not counted | EDARADD EDAR associated via death domain NCBI Gene 117671964 | Ensembl has no gene cross-references for this species. | |
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:0013982 | ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | OMIA's OMIM numbers |
| MONDO:0013983 | ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | 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.
The chain did not reach target evidence.
Drugs
The chain did not reach the drugs.