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. 2017 Jun 9;13(6):932. doi: 10.15252/msb.20167490

Figure 5. Select complexes in the map are strongly linked to human ciliopathies.

Figure 5

Eight complexes are highlighted with ciliopathy‐linked subunits (bold outlines), predicted ciliopathy subunits (dashed outlines), and their association with four representative ciliopathy phenotypes (A–D). We predict links to ciliopathies for uncharacterized proteins (green) that are co‐complex with known ciliopathy genes. All edges to ciliopathy phenotypes are mapped from OMIM (Amberger et al, 2015) or direct from literature (Krock & Perkins, 2008; Keady et al, 2011; Chang et al, 2015; Toriyama et al, 2016).
  1. Cystic kidney phenotype represented by polycystic kidneys from patient with OFD1 variant, adapted from Chetty‐John et al (2010).
  2. Digit malformations represented by polydactyly of Bardet–Biedl syndrome patient with LZTFL1 (BBS17) variant, adapted from Schaefer et al (2014).
  3. Short‐rib phenotype represented by chest narrowing of Jeune asphyxiating thoracic dystrophy individual with IFT80 variant, adapted from Beales et al (2007).
  4. Maculopathy represented by retinitis pigmentosa of Senior–Loken syndrome patient with mutation in WDR19 (Coussa et al, 2013).