Annotation Detail

Information
Associated Genes
GAA
Associated Variants
GAA MUTATION
GAA MUTATION
Associated Disease
Generalized glycogen storage disease of infants
Source Database
DisGeNET
Description
Novel GAA mutations in patients with Pompe disease.
Pubmed
25681614
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
DisGENET score for the Gene Disease association
0.0160150704527379
Drugs