OMIA group 483
Polled/Horns
The chain reaches the human disease blepharophimosis, ptosis, and epicanthus inversus syndrome, which Mondo defines as: “Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II).”
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 1 species entry 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
Stopped here
Open Targets links none of the group's human genes to any of its human diseases.
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Drugs
Not reached
The chain stopped before this step.
The chain stopped at Target evidence: Open Targets links none of the group's human genes to any of its human diseases.
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.
29.0 out of 100
| 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 | One to one ortholog | 20.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 1 naturally occurring species entry marked as a defect | 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 |
|---|---|---|---|
| bighorn sheep | Ovis canadensis | OMIA:000483-37174 | Unknown, not counted |
| domestic cattle Naturally occurring, and also genetically engineered. | Bos taurus | OMIA:000483-9913 | No, not counted |
| domestic yak | Bos grunniens | OMIA:000483-30521 | No, not counted |
| goat | Capra hircus | OMIA:000483-9925 | Yes |
| kouprey | Bos sauveli | OMIA:000483-135829 | Unknown, not counted |
| sheep | Ovis aries | OMIA:000483-9940 | No, not counted |
| water buffalo | Bubalus bubalis | OMIA:000483-89462 | Unknown, not counted |
| zebu cattle | Bos indicus | OMIA:000483-9915 | No, 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 |
|---|---|---|---|
| goat | ERG v-ets avian erythroblastosis virus E26 oncogene homolog NCBI Gene 102177198 | ERG Ensembl | one to one |
| goat | FOXL2 forkhead box L2 NCBI Gene 100750236 | Ensembl does not know this NCBI Gene identifier. | |
| bighorn sheep Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| domestic cattle Not a defect, not counted | POLLED NCBI Gene 281415 | Ensembl does not know this NCBI Gene identifier. | |
| domestic yak Not a defect, not counted | POLLED | No NCBI Gene identifier in OMIA. | |
| kouprey Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| sheep Not a defect, not counted | RXFP2 relaxin/insulin-like family peptide receptor 2 NCBI Gene 100532764 | Ensembl does not know this NCBI Gene identifier. | |
| water buffalo Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| zebu cattle 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:0007201 | blepharophimosis, ptosis, and epicanthus inversus syndrome Blepharophimosis, Ptosis, and Epicanthus Inversus syndrome (BPES) is an ophthalmic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus, that can appear associated with (type I) or without premature ovarian failure (POF) (type II). | 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.