Details of Disease | DrugMAP

General Information of Disease (ID: DIS3K27A)

Disease Name	Autosomal dominant Parkinson disease 8
Synonyms	autosomal dominant Parkinson's disease 8; PARK8; Parkinson disease 8, autosomal dominant; autosomal dominant Parkinson disease type 8; autosomal dominant Parkinson disease 8; Parkinson disease caused by mutation in LRRK2; LRRK2 Parkinson disease; Parkinson disease 8
Definition	Any Parkinson disease in which the cause of the disease is a mutation in the LRRK2 gene.
Disease Hierarchy	DIS9IOUI: Late-onset Parkinson disease DISQVHKL: Parkinson disease DIS3K27A: Autosomal dominant Parkinson disease 8
Disease Identifiers	MONDO ID MONDO_0011764 UMLS CUI C1846862 OMIM ID 607060 MedGen ID 339628

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
LRRK2	TTK0FEA	Definitive	Autosomal dominant	[1]
LRRK2	TTK0FEA	Definitive	Genetic Variation	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
LRRK2	OTLS7C99	Definitive	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.
2	Crystal structure of the WD40 domain dimer of LRRK2.Proc Natl Acad Sci U S A. 2019 Jan 29;116(5):1579-1584. doi: 10.1073/pnas.1817889116. Epub 2019 Jan 11.