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
The leucine-rich repeat kinase 2 mutation G2019S in the kinase-domain is the most common genetic cause of Parkinson's disease.
Pubmed
25107341
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.4358303271146
Year of publication
2014
Drugs