OMIA group 2976
Macular dystrophy, BEST1-related
The chain reaches the human disease BEST1-related dominant retinopathy, which Mondo defines as: “Any retinopathy caused by a heterozygous variant in the BEST1 gene.” It reaches 1 more human disease, listed below.
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.
-
Animal disease
Reached
OMIA records it in 1 species entry marked as a defect.
-
Human disease
Reached
2 Mondo diseases.
-
Human gene
Reached
1 human gene.
-
Target evidence
Reached
2 Open Targets associations, with a best score of 0.85.
-
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.
58.6 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.85 | 29.6 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 |
49.1 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.58 | 20.1 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 | 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 |
|---|---|---|---|
| crab-eating macaque | Macaca fascicularis | OMIA:002976-9541 | 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 |
|---|---|---|---|
| crab-eating macaque | BEST1 bestrophin 1 NCBI Gene 101925702 | BEST1 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: found a disease.
- OMIA's OMIM numbers: found a disease.
The two routes found different diseases. OMIA's own link is broader: its disease is a parent of one the OMIM numbers found.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0700238 | BEST1-related dominant retinopathy Any retinopathy caused by a heterozygous variant in the BEST1 gene. | OMIA's own Mondo link |
| MONDO:0007931 | vitelliform macular dystrophy 2 Best vitelliform macular dystrophy (BVMD) is a genetic macular dystrophy characterized by loss of central visual acuity, metamorphopsia and a decrease in the Arden ratio secondary to an egg yolk-like lesion located in the foveal or parafoveal region. | 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 |
|---|---|---|---|---|
| BEST1 | vitelliform macular dystrophy 2 | 0.85 | 544 | Genetic association 0.95 Genetic literature 0.72 Animal model 0.61 Literature 0.60 |
| BEST1 | BEST1-related dominant retinopathy | 0.58 | 9 | Genetic association 0.79 Genetic literature 0.61 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.