Details of Disease | DrugMAP

General Information of Disease (ID: DISGSYXL)

Disease Name	Autosomal dominant Parkinson disease 1
Synonyms	autosomal dominant Parkinson's disease 1; atypical Parkinson disease; PARK1; Parkinson disease 1, autosomal dominant; Parkinson disease 1, autosomal dominant Lewy body; autosomal dominant Parkinson disease 1; autosomal dominant Parkinson disease type 1
Definition	Editor note: DO def states any mutation in SNCA, but this would include PARK4; def needs to state that this is het mutation
Disease Hierarchy	DIS9IOUI: Late-onset Parkinson disease DISGSYXL: Autosomal dominant Parkinson disease 1
Disease Identifiers	MONDO ID MONDO_0008200 UMLS CUI C1868595 OMIM ID 168601 MedGen ID 357008

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
SNCA	TT08OSU	Disputed	Genetic Variation	[1]
SNCA	TT08OSU	Strong	Autosomal dominant	[2]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
SNCA	OTPWC1MR	Strong	Autosomal dominant	[2]
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References

1	Molecular determinants of -synuclein mutants' oligomerization and membrane interactions.ACS Chem Neurosci. 2015 Mar 18;6(3):403-16. doi: 10.1021/cn500332w. Epub 2015 Jan 21.
2	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.