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Alzheimer's disease 1
Summary
- Synonym
-
- Alzheimer's disease 1, early onset
- Definition
- An Alzheimer's disease that has_material_basis_in mutation heterozygous mutation in the APP gene, which encodes the amyloid precursor protein, on chromosome 21q21.
- Super Class
- Alzheimer's disease autosomal dominant disease
External Links
- Disease Ontology
- DOID:0080348
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 4973 | OLR1 | oxidized low density lipoprotein receptor 1 | |
| 5049 | PAFAH1B2 | platelet activating factor acetylhydrolase 1b catalytic subunit 2 | |
| 5091 | PC | pyruvate carboxylase | |
| 5105 | PCK1 | phosphoenolpyruvate carboxykinase 1 | |
| 5130 | PCYT1A | phosphate cytidylyltransferase 1A, choline | |
| 5168 | ENPP2 | ectonucleotide pyrophosphatase/phosphodiesterase 2 | |
| 5209 | PFKFB3 | 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 3 | |
| 5226 | PGD | phosphogluconate dehydrogenase | |
| 5289 | PIK3C3 | phosphatidylinositol 3-kinase catalytic subunit type 3 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha |
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q99685 | Monoglyceride lipase | |
| Q99798 | Aconitate hydratase, mitochondrial | |
| Q9BV94 | ER degradation-enhancing alpha-mannosidase-like protein 2 | |
| Q9BVK6 | Transmembrane emp24 domain-containing protein 9 | |
| Q9BXN2 | C-type lectin domain family 7 member A | |
| Q9BZR6 | Reticulon-4 receptor | |
| Q9H4A9 | Dipeptidase 2 | |
| Q9H7Z7 | Prostaglandin E synthase 2 | |
| Q9NNX6 | CD209 antigen | |
| Q9NPH3 | Interleukin-1 receptor accessory protein |
