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