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
That the most prevalent mutation, G2019S, leads to increased kinase activity has led to a concerted effort to identify LRRK2 kinase inhibitors as a potential disease-modifying therapy for PD.
Pubmed
26407721
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.4358303271146
Year of publication
2015
Drugs