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
We evaluated the neurological and neuropsychological profiles and olfaction as presymptomatic markers in a large family with Parkinson disease (PD) caused by the G2019S mutation in the LRRK2 gene.
Pubmed
18718805
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.4358303271146
Year of publication
2009
Drugs