OMIA group 3058
Ataxia, SETX-related
The chain reaches the human disease amyotrophic lateral sclerosis type 4, which Mondo defines as: “Any amyotrophic lateral sclerosis in which the cause of the disease is a variation in the SETX 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.
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Animal disease
Reached
OMIA records it in 1 species entry marked as a defect.
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Human disease
Reached
2 Mondo diseases.
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Human gene
Reached
1 human gene.
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Target evidence
Reached
2 Open Targets associations, 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.
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.83 | 29.1 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 |
56.7 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.79 | 27.7 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 |
|---|---|---|---|
| dog | Canis lupus familiaris | OMIA:003058-9615 | 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 |
|---|---|---|---|
| dog | SETX senataxin NCBI Gene 480691 | SETX 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:0011223 | amyotrophic lateral sclerosis type 4 Any amyotrophic lateral sclerosis in which the cause of the disease is a variation in the SETX gene. | OMIA's OMIM numbers |
| MONDO:0018996 | spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 A rare autosomal recessive cerebellar ataxia (ARCA), characterized by progressive cerebellar ataxia associated with frequent oculomotor apraxia, severe neuropathy and an elevated serum alpha-fetoprotein (AFP) level. | 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 |
|---|---|---|---|---|
| SETX | spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 | 0.83 | 1,942 | Genetic association 0.93 Genetic literature 0.88 Animal model 0.45 Literature 0.19 |
| SETX | amyotrophic lateral sclerosis type 4 | 0.79 | 1,844 | Genetic association 0.88 Genetic literature 0.84 Literature 0.41 Animal model 0.36 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.