Details of Disease

General Information of Disease (ID: DISIBMD3)

Disease Name Early-onset Parkinson disease 20
Synonyms early-onset Parkinson's disease 20; PARK20; Parkinson disease 20, early-onset; SYNJ1 Parkinson disease; early-onset Parkinson disease type 20; Parkinson disease caused by mutation in SYNJ1
Definition Any Parkinson disease in which the cause of the disease is a mutation in the SYNJ1 gene.
Disease Hierarchy
DISQVHKL: Parkinson disease
DIS05LFS: Young-onset Parkinson disease
DISIBMD3: Early-onset Parkinson disease 20
Disease Identifiers
MONDO ID
MONDO_0014233
UMLS CUI
C3809824
OMIM ID
615530
MedGen ID
816154

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
SYNJ1 OTTE02XC Strong Autosomal recessive [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.