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
- About one-third of patients with sporadic Parkinson disease (PD) and more than 40% of patients with familial PD of Ashkenazi Jewish descent likely carry the G2019S mutation in the LRRK2 gene, a mutation in the glucocerebrosidase (GBA) gene, or both.
- Pubmed
- 25347348
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.4358303271146
- Year of publication
- 2015
Drugs