Annotation Detail
Information
- Associated Genes
- GLA
- Associated Variants
-
GLA MUTATION
GLA MUTATION - Associated Disease
- Lysosomal Storage Diseases
- Source Database
- DisGeNET
- Description
- Screening for Fabry disease (FD), an X-linked lysosomal storage disorder, reveals a significant number of individuals with a genetic variant of unknown significance without classical FD manifestations; these variants in the α-galactosidase A gene often result in a high residual leukocyte α-galactosidase A and it is unclear whether these individuals suffer from FD.
- Pubmed
- 25187469
- Section of the abstract supporting the evidence
- BACKGROUND AND OBJECTIVES
- 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