OMIA group 626
Mannosidosis, beta
The chain reaches the human disease beta-mannosidosis, which Mondo defines as: “Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity.”
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 5 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 0.83.
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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.
63.9 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.83 | 28.9 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 | 5 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:000626-9615 | Yes |
| domestic cat | Felis catus | OMIA:000626-9685 | Yes |
| domestic cattle | Bos taurus | OMIA:000626-9913 | Yes |
| goat | Capra hircus | OMIA:000626-9925 | Yes |
| springbok | Antidorcas marsupialis | OMIA:000626-59523 | 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 | MANBA mannosidase, beta A, lysosomal NCBI Gene 487883 | MANBA Ensembl | one to one |
| domestic cat | MANBA mannosidase, beta A, lysosomal NCBI Gene 101085628 | MANBA Ensembl | one to one |
| domestic cattle | MANBA mannosidase beta NCBI Gene 281909 | MANBA Ensembl | one to one |
| goat | MANBA mannosidase, beta A, lysosomal NCBI Gene 100750234 | MANBA Ensembl | one to one |
| springbok | 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:0009562 | beta-mannosidosis Beta-mannosidosis is a very rare lysosomal storage disease characterized by developmental delay of varying severity and hearing loss, but that can manifest a wide phenotypic heterogeneity. | 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 |
|---|---|---|---|---|
| MANBA | beta-mannosidosis | 0.83 | 744 | Genetic association 0.90 Genetic literature 0.83 Literature 0.26 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.