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p(HGNC:LRRK2, var("p.Gly2019Ser"))

Equivalencies: 0 | Classes: 0 | Children: 0 | Explore

Entity

Name
LRRK2
Namespace
hgnc
Namespace Version
20180828
Namespace URL
https://raw.githubusercontent.com/pharmacome/terminology/1b20f0637c395f8aa89c2e2e342d7b704062c242/external/hgnc-symbols.belns

Appears in Networks 2

Alpha-synuclein oligomers: a new hope v1.0.0

New insights into the role of microRNAs and long noncoding RNAs in most common neurodegenerative diseases v1.0.0

In-Edges 1

p(HGNC:LRRK2) hasVariant p(HGNC:LRRK2, var("p.Gly2019Ser")) View Subject | View Object

Appears in Networks:

Out-Edges 2

p(HGNC:LRRK2, var("p.Gly2019Ser")) increases path(MESH:"Neurodegenerative Diseases") View Subject | View Object

Finally, Parkinson’s disease patients carrying familial mutations in the parkin gene, and some of those with the LRRK2 G2019S mutation, show neuronal degeneration in the absence of Lewy body formation [28, 50]. PubMed:28803412

Appears in Networks:
Annotations
Confidence
Medium

p(HGNC:LRRK2, var("p.Gly2019Ser")) increases path(MESH:"Parkinson Disease") View Subject | View Object

One of the most important mutations in LRRK2 is the Gly2019- Ser mutant, the most common cause of familial PD. PubMed:30663117

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Annotations
MeSH
Parkinson Disease

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If you find BEL Commons useful in your work, please consider citing: Hoyt, C. T., Domingo-Fernández, D., & Hofmann-Apitius, M. (2018). BEL Commons: an environment for exploration and analysis of networks encoded in Biological Expression Language. Database, 2018(3), 1–11.