Annotation Detail
Information
- Associated Genes
- SMPD1
- Associated Variants
-
SMPD1 p.Leu304Pro (p.L304P)
(
ENST00000527275.5,
ENST00000342245.9 )
SMPD1 p.Leu304Pro (p.L304P) ( ENST00000342245.9, ENST00000527275.5 ) - Associated Disease
- Parkinson disease
- Source Database
- DisGeNET
- Description
- The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease.
- Pubmed
- 23535491
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs