Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
SMN1 Survival of motor neuron 1, telomeric       | 5q13 | * Spinal muscular atrophy 1 - SMA1 (12.1, 12.2, 12.3, 12.4)* Kugelberg-Welander Syndrome - KWS (12.1, 12.2, 12.3, 12.4)* Spinal muscular atrophy 3 - SMA3 (12.1, 12.2, 12.3, 12.4)* Spinal muscular atrophy 2 - SMA2 (12.1, 12.2, 12.3, 12.4)* Spinal muscular atrophy 4 - SMA4 (12.1, 12.2, 12.3, 12.4) |