OMIA group 2238
Ichthyosis, ABCA12-related
The chain reaches the human disease autosomal recessive congenital ichthyosis 4A, which Mondo defines as: “Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 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 3 species entries 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 0.80.
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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.
64.9 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.80 | 27.9 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 | Both routes found this disease | 10.0 of 10 |
| Species | 2 naturally occurring species entries marked as a defect. 1 genetically engineered entry is not counted | 7.0 of 10 |
60.1 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.80 | 28.1 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 | 2 naturally occurring species entries marked as a defect. 1 genetically engineered entry is not counted | 7.0 of 10 |
Species
The chain follows only the species entries that OMIA marks as a defect.
| Species | Scientific name | OMIA entry | A defect |
|---|---|---|---|
| domestic cat | Felis catus | OMIA:002238-9685 | Yes |
| domestic cattle | Bos taurus | OMIA:002238-9913 | Yes |
| pig Genetically engineered, not naturally occurring. Not counted in the score. | Sus scrofa | OMIA:002238-9823 | 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 |
|---|---|---|---|
| domestic cat | ABCA12 ATP binding cassette subfamily A member 12 NCBI Gene 101081241 | ABCA12 Ensembl | one to one |
| domestic cattle | ABCA12 ATP binding cassette subfamily A member 12 NCBI Gene 523479 | ABCA12 Ensembl | one to one |
| pig | ABCA12 NCBI Gene 100512445 | ABCA12 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 some of the same diseases, but not all.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0011026 | autosomal recessive congenital ichthyosis 4A Any autosomal recessive congenital ichthyosis in which the cause of the disease is a mutation in the ABCA12 gene. | Both routes |
| MONDO:0009443 | autosomal recessive congenital ichthyosis 4B Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma. | 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 |
|---|---|---|---|---|
| ABCA12 | autosomal recessive congenital ichthyosis 4B | 0.80 | 219 | Genetic association 0.89 Genetic literature 0.80 Animal model 0.49 Literature 0.17 |
| ABCA12 | autosomal recessive congenital ichthyosis 4A | 0.80 | 114 | Genetic association 0.95 Genetic literature 0.73 Animal model 0.41 Literature 0.07 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.