Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
SOD1 Superoxide dismutase 1, soluble       | 21q22.1 | * Inherited peripheral neuropathy - (12.49, 12.54, 12.55, 14.82) * Charcot-Marie-Tooth disease, axonal - CMT3 (12.49, 12.54, 12.55, 14.82) * Amyotrophic lateral sclerosis 1 - ALS1 (12.49, 12.54, 12.55, 14.82)* Amyotrophic lateral sclerosis, due to SOD1 deficiency - ALS (12.49, 12.54, 12.55, 14.82) |