Annotation Detail
Information
- Associated Genes
- LRRK2
- Associated Variants
-
LRRK2 p.Ile2020Thr (p.I2020T)
(
ENST00000298910.12,
ENST00000680790.1 )
LRRK2 p.Ile2020Thr (p.I2020T) ( ENST00000298910.12, ENST00000680790.1 ) - Associated Disease
- Parkinson disease
- Source Database
- DisGeNET
- Description
- The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity.
- Pubmed
- 16321986
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.4358303271146
- Year of publication
- 2006
Drugs