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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
| 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 |
Related Glycoprotein
