OMIA group 2178
Abortion, BBS9 and BMPER-related
The chain reaches the human disease Bardet-Biedl syndrome 9, which Mondo defines as: “Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 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.
-
Animal disease
Reached
OMIA records it in 1 species entry marked as a defect.
-
Human disease
Reached
2 Mondo diseases.
-
Human gene
Reached
1 human gene.
-
Target evidence
Reached
1 Open Targets association, with a best score of 0.74.
-
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.
54.8 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.74 | 25.8 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 |
29.0 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 | 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 |
|---|---|---|---|
| pig | Sus scrofa | OMIA:002178-9823 | 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 |
|---|---|---|---|
| pig | BBS9 Bardet-Biedl syndrome 9 NCBI Gene 100739060 | Ensembl does not know this NCBI Gene identifier. | |
| pig | BMPER BMP binding endothelial regulator NCBI Gene 100525197 | BMPER 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:0014437 | Bardet-Biedl syndrome 9 Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS9 gene. | OMIA's OMIM numbers |
| MONDO:0011946 | diaphanospondylodysostosis Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate. | 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 |
|---|---|---|---|---|
| BMPER | diaphanospondylodysostosis | 0.74 | 152 | Genetic association 0.79 Genetic literature 0.77 Animal model 0.51 Literature 0.12 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.