Annotation Detail

Information
Associated Genes
GBA1
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
Patients with PD were genotyped for the LRRK2 G2019S mutation and at least 7 founder GBA mutations.GBA mutation carriers were excluded.
Pubmed
26062626
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.215823959499084
Year of publication
2015
Drugs