Notably, loss-of-function variants located in the first dehydrogenase domain of DHTKD1 were significantly more frequent in ALS patients of cohorts 1 and 2 than in gnomAD v2.1.1 controls (2/643 unrelated ALS cases of cohorts 1 and 2 versus 25/51,060 controls; p = 0.0442, two-sided Fisher’s exact test). The gene discussed is DHTKD1; the disease is amyotrophic lateral sclerosis.