When extending the analysis for all detectable isoforms of the genes of interest using the NYGC ALS cohort, 14/16 MAPT, 3/3 LRRC37A, 3/3 ARL17A, 7/12 CRHR1, 12/17 PLEKHM1 and 23/28 KANSL1 isoforms were significantly associated with at least one SVA_67 genotype (Table 2 and Supplementary Figures 1, 3–5, 7, 9). The gene discussed is MAPT; the disease is amyotrophic lateral sclerosis.