Annotation Detail
Information
- Associated Genes
- GBA1
- Associated Variants
-
GBA1 MUTATION
GBA1 MUTATION - Associated Disease
- Gaucher Disease, Type 1
- Source Database
- DisGeNET
- Description
- Loss of lysosomal glucocerebrosidase (GBA1) function is responsible for several organ defects, including skeletal abnormalities in type 1 Gaucher disease (GD).
- Pubmed
- 25326392
- 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,MGD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.444885953697445
Drugs