HPS4 and Other metabolic disease: Genes hosting A5S and A3S described here are associated with susceptibility to pathological conditions, such as cancer (MGA, RIOK3, SLFN11, NABP1, RPL22L1, and NFYC), mental retardation (PIGG), neurological disorders (TM2D2, ATXN7L3, AHDC1, and BRD2), metabolic disorder (ACOX1, HPS4, UROD and SHMT2), and infectious diseases (MT1X, STAT2, SHMT2, and NFYC) (Figure 7).