Annotation Detail
Information
- Associated Genes
- LRRK2
- Associated Variants
-
LRRK2 p.Tyr1699Cys (p.Y1699C)
(
ENST00000680790.1,
ENST00000298910.12 )
LRRK2 p.Tyr1699Cys (p.Y1699C) ( ENST00000298910.12, ENST00000680790.1 ) - Associated Disease
- Presenile dementia
- Source Database
- DisGeNET
- Description
- Pathogenic Lrrk2 Y1699C substitution observed in a large German-Canadian kindred presents a neurodegenerative disorder that is reminiscent of amyotrophic lateral sclerosis and Parkinsonism-Dementia Complex.
- Pubmed
- 16865326
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00190009310456212
- Year of publication
- 2007
Drugs