In case of ALMS, 11 genes exceeded threshold for significant upregulation (FC > 1.5, FDR < 0.05) and 35 genes were identified as significantly downregulated (FC < 0.67, FDR < 0.05), as shown in Figure 2C. In BBS, there were 10 significantly upregulated and 41 significantly downregulated genes (Figure 2D). The gene discussed is BBS2; the disease is Alstrom syndrome.