Fig. 4

Comparing the genes belonging to the “Anchoring of the basal body to the plasma membrane” pathway to the HP terms related to Joubert syndrome. a Distribution of symmetric semantic similarity scores of genes for the 8 HP terms related to Joubert syndrome. The red bars correspond to the distribution of the scores of genes belonging to the pathway of interest. The grey bars correspond to the distribution of the scores for all the other genes. (The density of scores equal to 0 is truncated; its actual value is 12.8) b Symmetric semantic similarity scores of genes belonging to the pathway of interest. The gene candidate, CC2D2A, is highlighted. Dashed red lines show the value of three specific quantiles: 50, 75 and 95%. c Heatmap showing the best semantic similarity between each gene in the pathway of interest (columns) and each HP term under focus (rows). The red intensity of each square corresponds to the highest semantic similarity score between the HP term of interest and the gene associated HP terms (white: 0 and red: 5.2). The gene candidate, CC2D2A, is highlighted. In figures (b) and (c), only the top 10 genes are shown. Additional file 3: Figure S1 shows results for all the genes in the pathway