Annotation Detail
Information
- Associated Genes
- GBA1
- Associated Variants
-
GBA1 MUTATION
GBA1 MUTATION - Associated Disease
- Gaucher disease
- Source Database
- DisGeNET
- Description
- Mutations in the gene that encodes the lysosomal enzyme acid β-glucosidase lead to reduced cellular activity and accumulation of glycosphingolipid substrates, biochemical hallmarks of the lysosomal storage disorder Gaucher disease (GD).
- Pubmed
- 24894562
- 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
- 1
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,GAD,LHGDN
- DisGENET score for the Gene Disease association
- 0.354558160887576
Drugs