Annotation Detail
Information
- Associated Genes
- GBA1
- Associated Variants
-
GBA1 MUTATION
GBA1 MUTATION - Associated Disease
- Hepatosplenomegaly
- Source Database
- DisGeNET
- Description
- Insufficient glucosylceramidase activity results in hepatosplenomegaly, cytopenias, and bone disease in patients.
- Pubmed
- 25655314
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 3
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
Drugs