Some have been implicated in non-neoplastic diseases (e.g., IDUA, top amplified gene, associated to mucopolysaccharidosis type I) [53], some have unknown functions (e.g., TMEM41B, top deleted gene), some are involved in organogenesis and oncogenesis (e.g., NOTCH1, master regulator of differentiation and tumorigenesis) [50]. The gene discussed is NOTCH1; the disease is neoplasm.