Annotation Detail

Information
Associated Genes
GLA
Associated Variants
GLA MUTATION
GLA MUTATION
Associated Disease
Fabry disease
Source Database
DisGeNET
Description
A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene.
Pubmed
25281798
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,ORPHANET,UNIPROT
DisGENET score for the Gene Disease association
0.664863403274564
Drugs