Annotation Detail
Information
- Associated Genes
- FXN
- Associated Variants
-
FXN MUTATION
FXN MUTATION - Associated Disease
- Ataxia
- Source Database
- DisGeNET
- Description
- The recessive ataxias are not named systematically: The most frequent are Friedreich, ataxia telangiectasia, ARSACS, AOA1 and 2, and the various POLG syndromes.
- Pubmed
- 25192506
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 6
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0236154428709864
Drugs