OMIA group 1542
Hypophosphatemic rickets, autosomal recessive, 1
The chain reaches the human disease hypophosphatemic rickets, autosomal recessive, 1, which Mondo defines as: “Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene.”
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.
-
Animal disease
Reached
OMIA records it in 2 species entries marked as a defect.
-
Human disease
Reached
1 Mondo disease.
-
Human gene
Reached
1 human gene.
-
Target evidence
Stopped here
None of the group's human diseases is in Open Targets.
-
Drugs
Not reached
The chain stopped before this step.
The chain stopped at Target evidence: None of the group's human diseases is in Open Targets.
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.
14.0 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 | Both routes found this disease | 10.0 of 10 |
| Species | 1 naturally occurring species entry marked as a defect. 1 genetically engineered entry is not counted | 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 |
|---|---|---|---|
| rabbit Genetically engineered, not naturally occurring. Not counted in the score. | Oryctolagus cuniculus | OMIA:001542-9986 | Yes |
| sheep | Ovis aries | OMIA:001542-9940 | 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 |
|---|---|---|---|
| rabbit | DMP1 dentin matrix acidic phosphoprotein 1 NCBI Gene 100345183 | DMP1 Ensembl | one to one |
| sheep | DMP1 dentin matrix acidic phosphoprotein 1 NCBI Gene 100861441 | Ensembl does not know this NCBI Gene identifier. | |
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.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0009430 | hypophosphatemic rickets, autosomal recessive, 1 Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene. | Both routes |
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.