BBS1 and polydactyly: Comparison of the BBS1 model to models trained on gene sets from known biological process shows that the top 10 results are terms relating to polydactylism, cholesterol and glycoside processes, and retina homeostasis, which relate to manifestations of BBS1 such as blindness, obesity and having extra fingers or toes (Forsythe and Beales, 2013) (Supplementary Table S3).