Annotation Detail

Information
Associated Genes
GLA
Associated Variants
GLA MUTATION
GLA MUTATION
Associated Disease
Fabry disease
Source Database
DisGeNET
Description
In adults with chronic kidney disease, an α-galactosidase A gene variant and an uncertain diagnosis of FD, a kidney biopsy with EM analysis should be performed to confirm or reject the diagnosis of FD nephropathy.
Pubmed
25187469
Section of the abstract supporting the evidence
CONCLUSIONS
Number of the section of the abstract supporting the evidence
4
Number of the sentence supporting the evidence
10
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