Annotation Detail
Information
- Associated Genes
- GBA1
- Associated Variants
-
GBA1 MUTATION
GBA1 MUTATION - Associated Disease
- Lewy Body Disease
- Source Database
- DisGeNET
- Description
- The high level of lysosomal enzymes activity observed in substantia nigra, together with the selective reduction of GCase in PD and DLB patients, further support the link between lysosomal dysfunction and PD pathogenesis, favoring the possible role of GCase as biomarker of synucleinopathy.
- Pubmed
- 25881142
- Section of the abstract supporting the evidence
- CONCLUSION
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 11
- Original source reporting the Gene Disease association
- BeFree,CTD_human,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.133082748643237
Drugs