Fig. 2

Gene Ontology (GO) and DiseaseGeNET (DGN) enrichment from Cri du chat patient promoter CpG changes. Promoter enrichment -log10(p.adjusted)*sign(NES) values that indicate how changed the CpG methylation is in patients compared to controls for a given gene promoter were used as input for gene set enrichment analysis in GO (A–C) and DGN (D–F) databases. In (A), semantically highly similar groups were combined through the clusterProfiler::simplify function. In (C) and (F) the promoter enrichment analysis and following GO or DGN enrichment was repeated with reduced set of CpGs, removing different segments of chromosome 5. The color indicates the NES values in (C) and (F), red indicating less CpG methylation in patients and blue indicating more, and the numbers show the p.adj of enrichment