Friedreich ataxia 1

Summary
Synonym
  • FA1
  • FRDA1
Definition
A Friedreich ataxia that has_material_basis_in homozygous or compound heterozygous mutation in FXN on 9q21.1.
Super Class
Friedreich ataxia
External Links
Disease Ontology
DOID:0111218
Mondo Disease Ontology
MeSH
OMIM
Related Genes
Displaying entries 1 - 10 of 11 in total
Gene ID Gene Symbol Description Source
50 ACO2 aconitase 2
847 CAT catalase
2548 GAA alpha glucosidase
2876 GPX1 glutathione peroxidase 1
3383 ICAM1 intercellular adhesion molecule 1
4023 LPL lipoprotein lipase
5563 PRKAA2 protein kinase AMP-activated catalytic subunit alpha 2
7412 VCAM1 vascular cell adhesion molecule 1
8395 PIP5K1B phosphatidylinositol-4-phosphate 5-kinase type 1 beta
8733 GPAA1 glycosylphosphatidylinositol anchor attachment 1

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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