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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
fragile X-associated tremor/ataxia syndrome
Summary
- Synonym
-
- FXTAS syndrome
- Definition
- A X-linked hereditary ataxia that is characterized by adult-onset progressive intention tremor and gait ataxia, has_material_basis_in expanded trinucleotide repeat of the FMR1 gene that results_in a toxic gain of function of FMR1 RNA.
- Super Class
- X-linked hereditary ataxia
External Links
- Disease Ontology
- DOID:0050879
- Mondo Disease Ontology
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P11717 | Cation-independent mannose-6-phosphate receptor | |
| P14555 | Phospholipase A2, membrane associated | |
| Q6P1J6 | Phospholipase B1, membrane-associated |
