OMIA group 2063
Hyperlipidaemia/atherosclerosis, APOE-related
The chain reaches the human disease hyperlipoproteinemia type 3, which Mondo defines as: “Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease.”
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 2 species entries marked as a defect.
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Human disease
Reached
1 Mondo disease.
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Human gene
Reached
1 human gene.
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Target evidence
Reached
1 Open Targets association, with a best score of 0.80.
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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.
58.2 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.80 | 28.2 of 35 |
| Drugs | A drug has reached approved for this disease | 25.0 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 | 0 naturally occurring species entries marked as a defect. 2 genetically engineered entries are not counted | 0.0 of 10 |
Species
The chain follows only the species entries that OMIA marks as a defect.
| Species | Scientific name | OMIA entry | A defect |
|---|---|---|---|
| dog Genetically engineered, not naturally occurring. Not counted in the score. | Canis lupus familiaris | OMIA:002063-9615 | No, not counted |
| golden hamster | Mesocricetus auratus | OMIA:002063-10036 | Unknown, not counted |
| pig Genetically engineered, not naturally occurring. Not counted in the score. | Sus scrofa | OMIA:002063-9823 | Yes |
| rabbit Genetically engineered, not naturally occurring. Not counted in the score. | Oryctolagus cuniculus | OMIA:002063-9986 | 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 | APOE apolipoprotein E NCBI Gene 397576 | APOE Ensembl | one to one |
| rabbit | APOE apolipoprotein E NCBI Gene 100009337 | Ensembl does not know this NCBI Gene identifier. | |
| dog Not a defect, not counted | APOE apolipoprotein E NCBI Gene 476438 | APOE Ensembl | one to one |
| golden hamster Not a defect, not counted | Apoe apolipoprotein E NCBI Gene 101839625 | APOE 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:0018473 | hyperlipoproteinemia type 3 Hyperlipoproteinemia (HLP) type 3 is a rare combined hyperlipidemia characterized by high levels of cholesterol and triglycerides, transported by intermediate density lipoproteins (IDLs), and a high risk of premature atherosclerosis and cardiovascular disease. | 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 |
|---|---|---|---|---|
| APOE | hyperlipoproteinemia type 3 | 0.80 | 293 | Genetic association 0.94 Genetic literature 0.85 Animal model 0.55 Literature 0.35 |
Drugs
No ChEMBL drug acts on a human gene of the group's target evidence.