Annotation Detail
Information
- Associated Genes
- FXN
- Associated Variants
-
FXN MUTATION
FXN MUTATION - Associated Disease
- Neurodegenerative Disorders
- Source Database
- DisGeNET
- Description
- Friedreich's ataxia (FRDA), the autosomal neurodegenerative disorder is the only human disease known so far, where a large purine (GAA) repeat in the FXN gene is known to inhibit the expression of frataxin protein.
- Pubmed
- 26149656
- 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
- 3
- Original source reporting the Gene Disease association
- BeFree,LHGDN
- DisGENET score for the Gene Disease association
- 0.0141249088698399
Drugs