OMIA group 2538
Alzheimer disease, APP-related
The chain reaches the human disease cerebral amyloid angiopathy, APP-related, which Mondo defines as: “A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3.” 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 6 species entries marked as a defect.
-
Human disease
Reached
2 Mondo diseases.
-
Human gene
Reached
1 human gene.
-
Target evidence
Reached
2 Open Targets associations, with a best score of 0.79.
-
Drugs
Reached
13 ChEMBL drugs, 4 approved. None has been tested for this disease.
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.
40.1 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.79 | 27.6 of 35 |
| Drugs | Drugs act on its genes, but no drug has been tested for this disease | 2.5 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 | 0 naturally occurring species entries marked as a defect. 6 genetically engineered entries are not counted | 0.0 of 10 |
33.9 out of 100
| Part | Computed from | Points |
|---|---|---|
| Target evidence | Open Targets score of 0.75 | 26.4 of 35 |
| Drugs | Drugs act on its genes, but no drug has been tested for this disease | 2.5 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. 6 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 |
|---|---|---|---|
| crab-eating macaque Genetically engineered, not naturally occurring. Not counted in the score. | Macaca fascicularis | OMIA:002538-9541 | Yes |
| dog Genetically engineered, not naturally occurring. Not counted in the score. | Canis lupus familiaris | OMIA:002538-9615 | Yes |
| northern tree shrew Genetically engineered, not naturally occurring. Not counted in the score. | Tupaia belangeri | OMIA:002538-37347 | Yes |
| pig Genetically engineered, not naturally occurring. Not counted in the score. | Sus scrofa | OMIA:002538-9823 | Yes |
| Rhesus monkey Genetically engineered, not naturally occurring. Not counted in the score. | Macaca mulatta | OMIA:002538-9544 | Yes |
| white-tufted-ear marmoset Genetically engineered, not naturally occurring. Not counted in the score. | Callithrix jacchus | OMIA:002538-9483 | 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 | APP amyloid beta precursor protein NCBI Gene 101926433 | APP Ensembl | one to one |
| dog | APP amyloid beta precursor protein NCBI Gene 403407 | APP Ensembl | one to one |
| northern tree shrew | No gene | OMIA records no gene for this species entry. | |
| pig | APP amyloid beta (A4) precursor protein NCBI Gene 397663 | APP Ensembl | one to one |
| Rhesus monkey | APP amyloid beta (A4) precursor protein NCBI Gene 100427716 | APP Ensembl | one to one |
| white-tufted-ear marmoset | APP amyloid beta (A4) precursor protein NCBI Gene 100407052 | APP 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: found a disease.
- OMIA's OMIM numbers: found a disease.
The two routes found some of the same diseases, but not all.
| Mondo disease | Name | Found by |
|---|---|---|
| MONDO:0007088 | Alzheimer disease type 1 | Both routes |
| MONDO:0011583 | cerebral amyloid angiopathy, APP-related A cerebral amyloid angiopathy that has material basis in an autosomal dominant mutation of APP on chromosome 21q21.3. | 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 |
|---|---|---|---|---|
| APP | Alzheimer disease type 1 | 0.79 | 75 | Genetic association 0.95 Genetic literature 0.61 Animal model 0.44 Literature 0.19 |
| APP | cerebral amyloid angiopathy, APP-related | 0.75 | 41 | Genetic association 0.87 Genetic literature 0.77 Animal model 0.55 |
Drugs
Drugs act on APP, but none has been tested for this disease.
| Drug | Acts on | How | Latest stage | Tested for this disease |
|---|---|---|---|---|
| Aducanumab | APP | binding agent | Approved | No |
| Donanemab | APP | disrupting agent | Approved | No |
| Lecanemab | APP | inhibitor | Approved | No |
| Tramiprosate | APP | stabiliser | Approved | No |
| Bapineuzumab | APP | binding agent | Phase 3 | No |
| Crenezumab | APP | inhibitor | Phase 3 | No |
| Gantenerumab | APP | binding agent | Phase 3 | No |
| Solanezumab | APP | binding agent | Phase 3 | No |
| Valiltramiprosate | APP | stabiliser | Phase 3 | No |
| Amilomotide | APP | vaccine antigen | Phase 2/3 | No |
| Gsk933776 | APP | binding agent | Phase 2 | No |
| Ponezumab | APP | binding agent | Phase 2 | No |
| Vanutide Cridificar | APP | vaccine antigen | Phase 2 | No |
The drug data is ChEMBL's, under CC BY-SA 3.0, and came through Open Targets release 26.09.