Details of Disease | DrugMAP

General Information of Disease (ID: DISXTIUR)

Disease Name	Parkinson disease 18, autosomal dominant, susceptibility to
Synonyms	susceptibility to autosomal dominant Parkinson disease 18; PARK18; Parkinson disease 18, autosomal dominant, susceptibility to; hereditary late onset Parkinson disease caused by mutation in EIF4G1; EIF4G1 hereditary late onset Parkinson disease; Parkinson disease 18
Definition	Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the EIF4G1 gene.
Disease Hierarchy	DIS98MYE: Inherited disease susceptibility DISXTIUR: Parkinson disease 18, autosomal dominant, susceptibility to
Disease Identifiers	MONDO ID MONDO_0013653 UMLS CUI C3280271 OMIM ID 614251 MedGen ID 481901

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
EIF4G1	OT2CF1E6	Moderate	Autosomal dominant	[1]
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References

1	The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.