OMIA group 392
Chromosomal structural anomaly, fragile site, autosomal
The chain reaches the human disease chromosome 16p12.1 deletion syndrome, 520kb, which Mondo defines as: “A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects.” 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 6 species entries marked as a defect.
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Human disease
Reached
2 Mondo diseases.
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Human gene
Stopped here
No gene of a species entry marked as a defect reaches a human gene through Ensembl's orthologs.
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Target evidence
Not reached
The chain stopped before this step.
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Drugs
Not reached
The chain stopped before this step.
The chain stopped at Human gene: No gene of a species entry marked as a defect reaches a human gene through Ensembl's orthologs.
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.
15.0 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 | No gene of a naturally occurring entry reaches a human gene | 0.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 6 naturally occurring species entries marked as a defect | 10.0 of 10 |
15.0 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 | No gene of a naturally occurring entry reaches a human gene | 0.0 of 20 |
| Both routes | One route found this disease | 5.0 of 10 |
| Species | 6 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:000392-9615 | Yes |
| domestic cat | Felis catus | OMIA:000392-9685 | Yes |
| domestic cattle | Bos taurus | OMIA:000392-9913 | Unknown, not counted |
| goat | Capra hircus | OMIA:000392-9925 | Unknown, not counted |
| horse | Equus caballus | OMIA:000392-9796 | Yes |
| pig | Sus scrofa | OMIA:000392-9823 | Yes |
| rabbit | Oryctolagus cuniculus | OMIA:000392-9986 | Unknown, not counted |
| raccoon dog | Nyctereutes procyonoides | OMIA:000392-34880 | Yes |
| sheep | Ovis aries | OMIA:000392-9940 | Yes |
| water buffalo | Bubalus bubalis | OMIA:000392-89462 | Unknown, not counted |
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 | No gene | OMIA records no gene for this species entry. | |
| domestic cat | No gene | OMIA records no gene for this species entry. | |
| horse | No gene | OMIA records no gene for this species entry. | |
| pig | No gene | OMIA records no gene for this species entry. | |
| raccoon dog | No gene | OMIA records no gene for this species entry. | |
| sheep | No gene | OMIA records no gene for this species entry. | |
| domestic cattle Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| goat Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| rabbit Not a defect, not counted | No gene | OMIA records no gene for this species entry. | |
| water buffalo Not a defect, not counted | 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: OMIA links the group to no Mondo disease.
- OMIA's OMIM numbers: found a disease.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0007631 | chromosome 16p12.1 deletion syndrome, 520kb A condition caused by a 520 kb deletion at 16p12.1. It is characterized by developmental delay, craniofacial dysmorphology and congenital heart defects. | OMIA's OMIM numbers |
| MONDO:0007629 | fragile site 10Q23 | 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.
The chain did not reach target evidence.
Drugs
The chain did not reach the drugs.