Annotation Detail
Information
- Associated Genes
- LRRK2
- Associated Variants
-
LRRK2 p.Ile1122Val (p.I1122V)
(
ENST00000343742.6,
ENST00000298910.12,
ENST00000680790.1 )
LRRK2 p.Val1598Glu (p.V1598E) ( ENST00000680790.1, ENST00000298910.12 )
LRRK2 p.Tyr1699Cys (p.Y1699C) ( ENST00000680790.1, ENST00000298910.12 )
LRRK2 p.Ile2012Thr (p.I2012T) ( ENST00000298910.12, ENST00000680790.1 )
LRRK2 p.Ile2020Thr (p.I2020T) ( ENST00000298910.12, ENST00000680790.1 )
LRRK2 p.Ile1122Val (p.I1122V) ( ENST00000298910.12, ENST00000343742.6, ENST00000680790.1 )
LRRK2 p.Val1598Glu (p.V1598E) ( ENST00000298910.12, ENST00000680790.1 )
LRRK2 p.Tyr1699Cys (p.Y1699C) ( ENST00000298910.12, ENST00000680790.1 )
LRRK2 p.Ile2012Thr (p.I2012T) ( ENST00000298910.12, ENST00000680790.1 )
LRRK2 p.Ile2020Thr (p.I2020T) ( ENST00000298910.12, ENST00000680790.1 ) - Associated Disease
- PARKINSON DISEASE 8 (disorder)
- Source Database
- DisGeNET
- Description
- Lrrk2 pathogenic substitutions in Parkinson's disease.
- Pubmed
- 16172858
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.44
- Year of publication
- 2005
Drugs