Annotation Detail
Information
- Associated Genes
- FXN
- Associated Variants
-
FXN MUTATION
FXN MUTATION - Associated Disease
- Neurodegenerative Disorders
- Source Database
- DisGeNET
- Description
- Expansion of GAA·TTC repeats within the first intron of the frataxin gene is the cause of Friedreich's ataxia (FRDA), an autosomal recessive neurodegenerative disorder.
- Pubmed
- 24691413
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- 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,LHGDN
- DisGENET score for the Gene Disease association
- 0.0141249088698399
Drugs