Annotation Detail
Information
- Associated Genes
- GBA1
- Associated Variants
-
GBA1 MUTATION
GBA1 MUTATION - Associated Disease
- Gaucher Disease, Type 2 (disorder)
- Source Database
- DisGeNET
- Description
- A novel complex allele and two new point mutations in type 2 (acute neuronopathic) Gaucher disease.
- Pubmed
- 9851895
- Original source reporting the Gene Disease association
- UNIPROT
- DisGENET score for the Gene Disease association
- 0.440814325616241
- Year of publication
- 1998
Drugs