OMIA group 1675
Retinal atrophy - Cone-rod dystrophy 2
The chain reaches the human disease Senior-Loken syndrome 5, which Mondo defines as: “Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 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 0.71.
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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.
56.8 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.71 | 24.8 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 | 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 |
|---|---|---|---|
| black-footed cat | Felis nigripes | OMIA:001675-61379 | Yes |
| dog | Canis lupus familiaris | OMIA:001675-9615 | 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 |
|---|---|---|---|
| black-footed cat | IQCB1 IQ motif containing B1 NCBI Gene 101085146 | The gene belongs to a different species than the entry. | |
| dog | IQCB1 IQ motif containing B1 NCBI Gene 478582 | IQCB1 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:0012225 | Senior-Loken syndrome 5 Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 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 |
|---|---|---|---|---|
| IQCB1 | Senior-Loken syndrome 5 | 0.71 | 225 | Genetic association 0.94 Genetic literature 0.87 Animal model 0.44 Literature 0.03 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.