OMIA group 625
Mannosidosis, alpha
The chain reaches the human disease alpha-mannosidosis, which Mondo defines as: “Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit.”
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 7 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 0.86.
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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.
95.0 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.86 | 30.0 of 35 |
| Drugs | A drug has reached approved for this disease | 25.0 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | Both routes found this disease | 10.0 of 10 |
| Species | 7 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:000625-9615 | Yes |
| domestic cat | Felis catus | OMIA:000625-9685 | Yes |
| domestic cattle | Bos taurus | OMIA:000625-9913 | Yes |
| domestic guinea pig | Cavia porcellus | OMIA:000625-10141 | Yes |
| goat | Capra hircus | OMIA:000625-9925 | Yes |
| llama | Lama glama | OMIA:000625-9844 | Yes |
| sheep | Ovis aries | OMIA:000625-9940 | 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 | MAN2B1 mannosidase, alpha, class 2B, member 1 NCBI Gene 484932 | MAN2B1 Ensembl | one to one |
| domestic cat | MAN2B1 mannosidase, alpha, class 2B, member 1 NCBI Gene 493697 | MAN2B1 Ensembl | one to one |
| domestic cattle | MAN2B1 mannosidase alpha class 2B member 1 NCBI Gene 282272 | MAN2B1 Ensembl | one to one |
| domestic guinea pig | Man2b1 mannosidase, alpha, class 2B, member 1 NCBI Gene 100718205 | MAN2B1 Ensembl | one to one |
| goat | No gene | OMIA records no gene for this species entry. | |
| llama | No gene | OMIA records no gene for this species entry. | |
| sheep | 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: found a disease.
- OMIA's OMIM numbers: found a disease.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0009561 | alpha-mannosidosis Alpha-mannosidosis is an inherited lysosomal storage disorder characterized by immune deficiency, facial and skeletal abnormalities, hearing impairment, and intellectual deficit. | Both routes |
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 |
|---|---|---|---|---|
| MAN2B1 | alpha-mannosidosis | 0.86 | 1,829 | Genetic association 0.98 Genetic literature 0.85 Animal model 0.34 Literature 0.20 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.