Additionally, genome-wide association studies have revealed that Isl1 is a major susceptibility gene for human congenital anomalies of the kidney and urinary tract (CAKUT) and bladder exstrophy-epispadias complex (BEEC)42–44, implying potential roles for Isl1 in urethra development. The gene discussed is ISL1; the disease is congenital anomaly of kidney and urinary tract.