Based on the entire cohort, SMAD4 mutations were significantly more prevalent among patients with Crohn’s disease than others (4/7 [57%] vs. 24/436 [5.5%], P = 0.0041; 3/5 [60%] vs. 24/436 [5.5%], P<0.0001 for CRCs only). The gene discussed is SMAD4; the disease is Crohn disease.