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Alzheimer disease 18
Disease Summary
Associated Targets (1)
Tchem
1
Mondo Description Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene.
Uniprot Description A late-onset form of Alzheimer disease. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituents of these plaques are neurotoxic amyloid-beta protein 40 and amyloid-beta protein 42, that are produced by the proteolysis of the transmembrane APP protein. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products, such as C31, are also implicated in neuronal death.
Disease Ontology Description An Alzheimer's disease that has_material_basis_in a mutation in the ADAM10 gene on chromosome 15q21.
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from UniProt.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
DOID:0110050
OMIM:615590
UMLS:C3810041
MONDO:0014265
High level summary of knowledge for a disease, including descriptions and datasource references.