Proximal spinal muscular atrophy
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Spinal Muscular Atrophy, Proximal, Adult, Autosomal Dominant | C1866777 | VAPB | 20377183, 21933185, 22258555, 26566915, 17804640, 23771029, 15372378, 24212516, 22454507, 21275991, 16967488 |
| Proximal spinal muscular atrophy type 1 | 83330 | SMN2 | |
| NAIP | |||
| SMN1 | |||
| Proximal spinal muscular atrophy type 3 | 83419 | SMN2 | |
| NAIP | |||
| SMN1 | |||
| Proximal spinal muscular atrophy type 4 | 83420 | SMN2 | |
| SMN1 | |||
| Proximal spinal muscular atrophy type 2 | 83418 | SMN2 | |
| NAIP | |||
| SMN1 |