SLC12A1 (ENSG00000074803) was the gene with the largest logFCs (1.74 in the RUMC and 3.63 in the UNEW cohort), and it was found to be elevated in FSHD patients (Fig. 2D); on the other hand, PTGDR (ENSG00000168229) was the gene with the strongest negative logFCs (-0.36 in the RUMC and -0.63 in the UNEW cohort; Fig. 2E). Here, SLC12A1 is linked to facioscapulohumeral muscular dystrophy.