OMIA group 1461
Gangliosidosis, GM2, type I (B variant)
The chain reaches the human disease Tay-Sachs disease, which Mondo defines as: “GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency.”
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.
85.2 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.86 | 30.2 of 35 |
| Drugs | A drug has reached phase 3 for this disease | 20.0 of 25 |
| Ortholog | One to one ortholog | 20.0 of 20 |
| Both routes | One route found this disease | 5.0 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 |
|---|---|---|---|
| American flamingo | Phoenicopterus ruber | OMIA:001461-9217 | Yes |
| dog | Canis lupus familiaris | OMIA:001461-9615 | Yes |
| domestic cattle | Bos taurus | OMIA:001461-9913 | Yes |
| muntjak | Muntiacus muntjak | OMIA:001461-9888 | Yes |
| pig | Sus scrofa | OMIA:001461-9823 | Yes |
| rabbit | Oryctolagus cuniculus | OMIA:001461-9986 | Yes |
| sheep | Ovis aries | OMIA:001461-9940 | 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 |
|---|---|---|---|
| American flamingo | HEXA | No NCBI Gene identifier in OMIA. | |
| dog | HEXA hexosaminidase A (alpha polypeptide) NCBI Gene 487633 | HEXA Ensembl | one to one |
| domestic cattle | HEXA hexosaminidase subunit alpha NCBI Gene 504468 | HEXA Ensembl | one to one |
| muntjak | No gene | OMIA records no gene for this species entry. | |
| pig | HEXA hexosaminidase A (alpha polypeptide) NCBI Gene 100142664 | HEXA Ensembl | one to one |
| rabbit | No gene | OMIA records no gene for this species entry. | |
| sheep | HEXA hexosaminidase A (alpha polypeptide) NCBI Gene 100145856 | HEXA 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:0010100 | Tay-Sachs disease GM2 gangliosidosis, variant B or Tay-Sachs disease is marked by accumulation of G2 gangliosides due to hexosaminidase A deficiency. | 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 |
|---|---|---|---|---|
| HEXA | Tay-Sachs disease | 0.86 | 1,540 | Genetic association 0.98 Genetic literature 0.87 Literature 0.33 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.