For example, mutations of TMEM67 cause various genetic diseases such as Meckel-Gruber syndrome type 3 (OMIM # 607361), JBTS type 6 (OMIM # 610688), nephronophthisis type 11 (NPHP11; OMIM # 613550) and COACH syndrome42. Here, TMEM67 is linked to Meckel syndrome, type 3.