Figure 4.

Excerpt from the “General annotation (Comments)” section in Q5HYA8, containing functional annotations based on publications. TMEM67 mutations are involved in several ciliopathies, including Meckel syndrome 3 (MKS3), Joubert syndrome 6 (JBTS6), Bardet–Biedl syndrome (BBS), COACH syndrome (COACHS), and nephronophthisis 11 (NPHP11). The precise type of association with the disease, i.e. confirmed or probable pathological role, susceptibility to disease or disease modification, is indicated in the “Note” using a controlled vocabulary.