Annotation Detail
Information
- Associated Genes
- GBA1
- Associated Variants
-
GBA1 p.Ala495Pro (p.A495P)
(
ENST00000368373.8,
ENST00000427500.7,
ENST00000327247.9,
ENST00000428024.3 )
GBA1 p.Ala495Pro (p.A495P) ( ENST00000327247.9, ENST00000368373.8, ENST00000427500.7, ENST00000428024.3 ) - Associated Disease
- Gaucher Disease, Type 1
- Source Database
- DisGeNET
- Description
- Parkinsonism is an established feature of Gaucher's disease and an increased frequency of mutations in GBA has been reported in several different ethnic series with sporadic Parkinson's disease.
- Pubmed
- 19286695
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.444885953697445
- Year of publication
- 2009
Drugs