As detailed above, EZH2 is mutated in specific forms of appendiceal cancers, and several of the other epigenetic regulators found to be mutated in appendiceal neoplasms have been linked in some form to EZH2 overexpression or hyperactivation as well, most prominently PI3K/AKT, as well as KDM6A and specific subunits of the SWI/SNF complex. The gene discussed is EZH2; the disease is appendiceal neoplasm.