OMIA group 1271
Dwarfism, ACAN-related
The chain reaches the human disease short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans, which Mondo defines as: “A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence.” It reaches 2 more human diseases, 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
3 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 0.75.
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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.
61.3 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.75 | 26.3 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 | 3 naturally occurring species entries marked as a defect | 10.0 of 10 |
60.9 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.74 | 25.9 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 | 3 naturally occurring species entries marked as a defect | 10.0 of 10 |
35.0 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | No Open Targets association with this disease | 0.0 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 | 3 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 |
|---|---|---|---|
| domestic cattle | Bos taurus | OMIA:001271-9913 | Yes |
| horse | Equus caballus | OMIA:001271-9796 | Yes |
| zebu cattle | Bos indicus | OMIA:001271-9915 | 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 cattle | ACAN aggrecan NCBI Gene 280985 | ACAN Ensembl | one to one |
| horse | ACAN aggrecan NCBI Gene 100033876 | Ensembl does not know this NCBI Gene identifier. | |
| zebu cattle | ACAN aggrecan NCBI Gene 280985 | The gene belongs to a different species than the 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:0100462 | short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans A rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly affecting the knees, hips, ankles and elbows with onset generally in late childhood or adolescence. | OMIA's OMIM numbers |
| MONDO:0013014 | spondyloepimetaphyseal dysplasia, aggrecan type A spondyloepimetaphyseal dysplasia caused by biallelic variation in ACAN gene, characterized by severe short stature, facial dysmorphism and characteristic radiographic findings. | OMIA's OMIM numbers |
| MONDO:0012019 | spondyloepiphyseal dysplasia, Kimberley type A spondyloepiphyseal dysplasia caused by a single allele variation in ACAN gene, characterized by short stature and premature degenerative arthropathy. | 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 |
|---|---|---|---|---|
| ACAN | spondyloepimetaphyseal dysplasia, aggrecan type | 0.75 | 99 | Genetic association 0.80 Genetic literature 0.80 Animal model 0.49 Literature 0.02 |
| ACAN | spondyloepiphyseal dysplasia, Kimberley type | 0.74 | 95 | Genetic association 0.82 Genetic literature 0.77 Animal model 0.49 Literature 0.12 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.