Annotation Detail

Information
Associated Genes
GLA
Associated Variants
GLA MUTATION
GLA MUTATION
Associated Disease
Lysosomal Storage Diseases
Source Database
DisGeNET
Description
Fabry disease (FD) is an X-linked lysosomal storage disorder resulting from deficiency of α-galactosidase A (GLA).
Pubmed
25468650
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
0.0100433492669712
Drugs