Friedreich ataxia

Summary
Synonym
  • Friedreich's ataxia
  • Friedreich's tabes
Super Class
autosomal recessive cerebellar ataxia
External Links
Disease Ontology
DOID:12705
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 1 - 10 of 16 in total
Gene ID Gene Symbol Description Source
50 ACO2 aconitase 2
847 CAT catalase
1738 DLD dihydrolipoamide dehydrogenase
2548 GAA alpha glucosidase
2876 GPX1 glutathione peroxidase 1
3295 HSD17B4 hydroxysteroid 17-beta dehydrogenase 4
3383 ICAM1 intercellular adhesion molecule 1
4023 LPL lipoprotein lipase
5563 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2
5621 PRNP prion protein (Kanno blood group)

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: August 19, 2024