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episodic ataxia type 6
Summary
- Definition
- An episodic ataxia that is characterized by nystagmus and dysarthria, and has_material_basis_in autosomal dominant inheritance of mutation in the SLC1A3 gene.
- Super Class
- episodic ataxia
External Links
- Disease Ontology
- DOID:0050994
- Mondo Disease Ontology
- OMIM
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 6505 | SLC1A1 | solute carrier family 1 member 1 | |
| 6507 | SLC1A3 | solute carrier family 1 member 3 | |
| 6509 | SLC1A4 | solute carrier family 1 member 4 | |
| 6510 | SLC1A5 | solute carrier family 1 member 5 | |
| 6511 | SLC1A6 | solute carrier family 1 member 6 | |
| 6512 | SLC1A7 | solute carrier family 1 member 7 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 20510 | Slc1a1 | solute carrier family 1 (neuronal/epithelial high affinity glutamate transporter, system Xag), member 1 | |
| 20512 | Slc1a3 | solute carrier family 1 (glial high affinity glutamate transporter), member 3 | |
| 20513 | Slc1a6 | solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6 | |
| 55963 | Slc1a4 | solute carrier family 1 (glutamate/neutral amino acid transporter), member 4 | |
| 242607 | Slc1a7 | solute carrier family 1 (glutamate transporter), member 7 |
