OMIA group 1230
XY sex reversal, SRY-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 6 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 0.82.
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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.
68.8 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.82 | 28.8 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 | Both routes found this disease | 10.0 of 10 |
| Species | 4 naturally occurring species entries marked as a defect. 2 genetically engineered entries are not counted | 10.0 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:001230-9913 | Yes |
| horse | Equus caballus | OMIA:001230-9796 | Yes |
| pig Genetically engineered, not naturally occurring. Not counted in the score. | Sus scrofa | OMIA:001230-9823 | Yes |
| rabbit Genetically engineered, not naturally occurring. Not counted in the score. | Oryctolagus cuniculus | OMIA:001230-9986 | Yes |
| sheep | Ovis aries | OMIA:001230-9940 | Yes |
| Western roe deer | Capreolus capreolus | OMIA:001230-9858 | 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 |
|---|---|---|---|
| domestic cattle | SRY sex determining region Y NCBI Gene 280931 | SRY Ensembl | one to one |
| horse | SRY sex determining region Y NCBI Gene 100033824 | Ensembl does not know this NCBI Gene identifier. | |
| pig | SRY sex determining region Y NCBI Gene 407740 | SRY Ensembl | one to many |
| rabbit | SRY sex determining region Y NCBI Gene 100328958 | Ensembl does not know this NCBI Gene identifier. | |
| sheep | SRY sex determining region Y NCBI Gene 100529253 | Ensembl does not know this NCBI Gene identifier. | |
| Western roe deer | No gene | OMIA records no gene for this species entry. | |
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:0020712 | 46,XY sex reversal 1 | 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 |
|---|---|---|---|---|
| SRY | 46,XY sex reversal 1 | 0.82 | 85 | Genetic association 0.96 Genetic literature 0.72 Animal model 0.44 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.