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
- Source Database
- DisGeNET
- Description
- Interestingly, LRRK2 G2019S carriers (n = 36), most of whom had Parkinson's disease, had higher enzymatic activity than non-carriers (13.69 µmol/l/h versus 11.93 µmol/l/h, P = 0.002).
- Pubmed
- 26117366
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.4358303271146
- Year of publication
- 2015
Drugs