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spinal muscular atrophy
Summary
- Definition
- A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.
- Super Class
- motor neuron disease
External Links
- Disease Ontology
- DOID:12377
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- GARD
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 2523 | FUT1 | fucosyltransferase 1 (H blood group) | |
| 2531 | KDSR | 3-ketodihydrosphingosine reductase | |
| 2597 | GAPDH | glyceraldehyde-3-phosphate dehydrogenase | |
| 2760 | GM2A | ganglioside GM2 activator | |
| 3073 | HEXA | hexosaminidase subunit alpha | |
| 3074 | HEXB | hexosaminidase subunit beta | |
| 3339 | HSPG2 | heparan sulfate proteoglycan 2 | |
| 3958 | LGALS3 | galectin 3 | |
| 5230 | PGK1 | phosphoglycerate kinase 1 | |
| 5621 | PRNP | prion protein (Kanno blood group) |
Related Glycoprotein
