Annotation Detail
Information
- Associated Genes
- FXN
- Associated Variants
-
FXN MUTATION
FXN MUTATION - Associated Disease
- Neurodegenerative Disorders
- Source Database
- DisGeNET
- Description
- Friedreich ataxia (FRDA), a recessive neurodegenerative disorder commonly associated with hypertrophic cardiomyopathy, is due to GAA repeat expansions within the first intron of the frataxin (FXN) gene encoding the mitochondrial protein involved in iron-sulfur cluster biosynthesis.
- Pubmed
- 24327207
- 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