Annotation Detail
Information
- Associated Genes
- GLA
- Associated Variants
-
GLA MUTATION
GLA MUTATION - Associated Disease
- Fabry disease
- Source Database
- DisGeNET
- Description
- The alpha-galactosidase A p.Arg118Cys variant does not cause a Fabry disease phenotype: data from individual patients and family studies.
- Pubmed
- 25468652
- 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