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SMN1 - survival of motor neuron 1, telomeric
- Synonym(s) : BCD541, GEMIN1, gemin-1, SMA1, SMA2, SMA3, SMNT, TDRD16A, tudor domain containing 16A
- Previous symbols and names : SMA, SMA@, spinal muscular atrophy (Werdnig-Hoffmann disease, Kugelberg-Welander disease)
- Type : gene with protein product
- Chromosomal location : 5q13.2
- OMIM: 600354
- HGNC: 11117
- UniProtKB: Q16637
- Genatlas: SMN1
- Ensembl: ENSG00000172062
- IUPHAR-DB: -
- Reactome: Q16637
Diseases list
- Disease-causing germline mutation(s) in Proximal spinal muscular atrophy type 1
- Disease-causing germline mutation(s) in Proximal spinal muscular atrophy type 2
- Disease-causing germline mutation(s) in Proximal spinal muscular atrophy type 3
- Disease-causing germline mutation(s) in Proximal spinal muscular atrophy type 4
: AssessedAdditional information
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