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Parkinson disease 18, autosomal dominant, susceptibility to
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the EIF4G1 gene.
Uniprot Description An autosomal dominant, late-onset form of Parkinson disease. Parkinson disease is a complex neurodegenerative disorder characterized by bradykinesia, resting tremor, muscular rigidity and postural instability, as well as by a clinically significant response to treatment with levodopa. The pathology involves the loss of dopaminergic neurons in the substantia nigra and the presence of Lewy bodies (intraneuronal accumulations of aggregated proteins), in surviving neurons in various areas of the brain.
Mondo Term and Equivalent IDs
MONDO:0013653: Parkinson disease 18, autosomal dominant, susceptibility to
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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.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:614251
UMLS:C3280271
MONDO:0013653
High level summary of knowledge for a disease, including descriptions and datasource references.