Annotation Detail
Information
- Associated Genes
- LRRK2
- Associated Variants
-
LRRK2 p.Gly2019Ser (p.G2019S)
(
ENST00000298910.12,
ENST00000680790.1 )
LRRK2 p.Gly2019Ser (p.G2019S) ( ENST00000298910.12, ENST00000680790.1 ) - Associated Disease
- Parkinson disease, late-onset
- Source Database
- DisGeNET
- Description
- Enhanced kinase activity of G2019S LRRK2 is a suspected mechanism for carriers to develop PD but pathophysiological function of G2019S LRRK2 is not clear.
- Pubmed
- 25174649
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00271441872080303
- Year of publication
- 2014
Drugs