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
Neurodegenerative Disorders
Source Database
DisGeNET
Description
LRRK2 G2019S is the single most common pathogenic mutation linked to neurodegenerative disease to date.
Pubmed
16250030
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.018236263037701
Year of publication
2006
Drugs