As a well-established ALS gene (Mann et al., 2023; Noh et al., 2025; Rifai et al., 2025), PTVs in NEK1 showed the highest carrier frequency in MND cases, detected in 9 out of 663 MND patients (1.36%) compared to 613 out of 393,083 controls (0.16%, OR = 9.23, 95% CI = 5.29–16.10, PGLM = 4.77 × 10−15, PSKAT-O = 6.75 × 10−15). This evidence concerns the gene NEK1 and amyotrophic lateral sclerosis.