OMIA group 1551
Brachycephaly
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
2 human genes.
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Target evidence
Reached
1 Open Targets association, with a best score of 0.47.
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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.
51.4 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.47 | 16.4 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 | 6 naturally occurring species entries marked as a defect | 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 |
|---|---|---|---|
| dog | Canis lupus familiaris | OMIA:001551-9615 | Yes |
| domestic cat | Felis catus | OMIA:001551-9685 | Yes |
| domestic cattle | Bos taurus | OMIA:001551-9913 | Yes |
| goat | Capra hircus | OMIA:001551-9925 | Yes |
| pig | Sus scrofa | OMIA:001551-9823 | Unknown, not counted |
| rabbit | Oryctolagus cuniculus | OMIA:001551-9986 | Unknown, not counted |
| river trout | Salmo trutta | OMIA:001551-8032 | Yes |
| sheep | Ovis aries | OMIA:001551-9940 | 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 |
|---|---|---|---|
| dog | BMP3 bone morphogenetic protein 3 NCBI Gene 487826 | Ensembl does not know this NCBI Gene identifier. | |
| dog | DVL2 dishevelled segment polarity protein 2 NCBI Gene 489464 | DVL2 Ensembl | one to one |
| dog | SMOC2 SPARC related modular calcium binding 2 NCBI Gene 476270 | SMOC2 Ensembl | one to one |
| domestic cat | No gene | OMIA records no gene for this species entry. | |
| domestic cattle | No gene | OMIA records no gene for this species entry. | |
| goat | No gene | OMIA records no gene for this species entry. | |
| river trout | No gene | OMIA records no gene for this species entry. | |
| sheep | No gene | OMIA records no gene for this species entry. | |
| pig Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| rabbit Not a defect, not counted | 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: OMIA links the group to no Mondo disease.
- OMIA's OMIM numbers: found a disease.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0017819 | atypical dentin dysplasia due to SMOC2 deficiency | 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 |
|---|---|---|---|---|
| SMOC2 | atypical dentin dysplasia due to SMOC2 deficiency | 0.47 | 5 | Genetic association 0.61 Genetic literature 0.61 Animal model 0.35 Literature 0.04 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.