OMIA group 1401
Waardenburg syndrome, type 2A
The chain reaches the human disease Waardenburg syndrome type 2A, which Mondo defines as: “Waardenburg syndrome Type 2 caused by mutations in the MITF gene.”
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.
60.1 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.80 | 28.1 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 | 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 |
|---|---|---|---|
| domestic cattle | Bos taurus | OMIA:001401-9913 | Unknown, not counted |
| golden hamster | Mesocricetus auratus | OMIA:001401-10036 | Yes |
| pig | Sus scrofa | OMIA:001401-9823 | 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 |
|---|---|---|---|
| golden hamster | MITF microphthalmia-associated transcription factor NCBI Gene 101823465 | MITF Ensembl | one to one |
| pig | MITF microphthalmia-associated transcription factor NCBI Gene 414902 | MITF Ensembl | one to one |
| domestic cattle Not a defect, not counted | MITF microphthalmia-associated transcription factor NCBI Gene 407219 | MITF 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:0008671 | Waardenburg syndrome type 2A Waardenburg syndrome Type 2 caused by mutations in the MITF gene. | 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 |
|---|---|---|---|---|
| MITF | Waardenburg syndrome type 2A | 0.80 | 1,154 | Genetic association 0.93 Genetic literature 0.80 Animal model 0.64 Literature 0.17 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.