Annotation Detail
Information
- Associated Genes
- GAA
- Associated Variants
-
GAA MUTATION
GAA MUTATION - Associated Disease
- Glycogen storage disease type II
- Source Database
- DisGeNET
- Description
- Clinical and GAA gene mutation analysis in mainland Chinese patients with late-onset Pompe disease: identifying c.2238G > C as the most common mutation.
- Pubmed
- 25526786
- Section of the abstract supporting the evidence
- TITLE
- Number of the section of the abstract supporting the evidence
- 0
- Number of the sentence supporting the evidence
- 0
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,GAD,LHGDN,MGD,UNIPROT
- DisGENET score for the Gene Disease association
- 0.499337113635194
Drugs