The top ranked set from analysis of 1,090 canonical gene sets was the gene set related to cilia-microtubule function (P=2.1 × 10−8, Q=0.01, permutation test), containing genes DNAAF1, DYNC2H1, DRC1, CEP290 and MAP4 (Table 2 and Supplementary Table 1) which are each a cause of recessive ciliopathy (PCD—DNAAF1/DRC1 (refs 14,19); asphyxiating thoracic dystrophy—DYNC2H1 (ref. 20); Joubert syndrome—CEP290 (refs 21, 22); and Senior-Loken syndrome—MAP4 via TRAF3IP1 mutation23). Here, CEP290 is linked to Joubert syndrome.