Annotation Detail
Information
- Associated Genes
- GAA
- Associated Variants
-
GAA MUTATION
GAA MUTATION - Associated Disease
- Lysosomal Storage Diseases
- Source Database
- DisGeNET
- Description
- Pompe disease is an inherited lysosomal storage disorder that results from a deficiency in acid α-glucosidase (GAA) activity due to mutations in the GAA gene.
- Pubmed
- 25036864
- 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
- DisGENET score for the Gene Disease association
- 0.00108576748832121
Drugs