OMIA group 499
Hypercholesterolaemia
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 7 species entries marked as a defect.
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Human disease
Reached
1 Mondo disease.
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Human gene
Reached
2 human genes.
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Target evidence
Reached
1 Open Targets association, with a best score of 0.87.
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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.
65.5 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.87 | 30.5 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 | 5 naturally occurring species entries marked as a defect. 2 genetically engineered entries are not counted | 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 |
|---|---|---|---|
| crab-eating macaque Genetically engineered, not naturally occurring. Not counted in the score. | Macaca fascicularis | OMIA:000499-9541 | Yes |
| dog | Canis lupus familiaris | OMIA:000499-9615 | Yes |
| domestic cat | Felis catus | OMIA:000499-9685 | Yes |
| golden hamster Genetically engineered, not naturally occurring. Not counted in the score. | Mesocricetus auratus | OMIA:000499-10036 | Yes |
| pig Naturally occurring, and also genetically engineered. | Sus scrofa | OMIA:000499-9823 | Yes |
| rabbit Naturally occurring, and also genetically engineered. | Oryctolagus cuniculus | OMIA:000499-9986 | Yes |
| Rhesus monkey | Macaca mulatta | OMIA:000499-9544 | 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 |
|---|---|---|---|
| crab-eating macaque | LDLR low density lipoprotein receptor NCBI Gene 102127361 | Ensembl does not know this NCBI Gene identifier. | |
| dog | No gene | OMIA records no gene for this species entry. | |
| domestic cat | LDLR low density lipoprotein receptor NCBI Gene 101080362 | LDLR Ensembl | one to one |
| golden hamster | Ldlr low density lipoprotein receptor NCBI Gene 101828208 | LDLR Ensembl | one to one |
| pig | LDLR low density lipoprotein receptor NCBI Gene 396801 | LDLR Ensembl | one to one |
| rabbit | No gene | OMIA records no gene for this species entry. | |
| Rhesus monkey | LDLR low density lipoprotein receptor NCBI Gene 574283 | LDLR Ensembl | one to one |
| Rhesus monkey | MBTPS2 membrane bound transcription factor peptidase, site 2 NCBI Gene 696540 | YY2 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:0007750 | hypercholesterolemia, familial, 1 | 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 |
|---|---|---|---|---|
| LDLR | hypercholesterolemia, familial, 1 | 0.87 | 2,998 | Genetic association 0.98 Somatic mutation 0.92 Genetic literature 0.84 Animal model 0.61 Literature 0.04 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.