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
- Parkinsonian Disorders
- Source Database
- DisGeNET
- Description
- We have identified Family SK where Lrrk2 G2019S segregates with slowly progressive parkinsonism and the affected proband has tau-immunopositive neurofibrillary tangle pathology.
- Pubmed
- 17060589
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.159157150231213
- Year of publication
- 2006
Drugs