Annotation Detail
Information
- Associated Genes
- GAA
- Associated Variants
-
GAA MUTATION
GAA MUTATION - Associated Disease
- Glycogen storage disease type II
- Source Database
- DisGeNET
- Description
- Pompe disease (glycogen storage disease type II) is caused by autosomal recessive mutations in GAA gene.
- Pubmed
- 25047669
- 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,MGD,UNIPROT
- DisGENET score for the Gene Disease association
- 0.499337113635194
Drugs