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
- Central neuroblastoma
- Source Database
- DisGeNET
- Description
- Reduction of Akt1 phosphorylation and apoptosis resistance were also evident when a neuroblastoma SH-SY5Y clone overexpressing WT LRRK2 was transfected with the I2020T LRRK2.
- Pubmed
- 23220480
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
- Year of publication
- 2013
Drugs