Human diseases overlapping Cornelia de Lange syndrome (CdLS)
| Disease | Gene(s) | Role |
| CdLS-like | BRD4 | It binds to hyperacetylated genomic regions that encompass promoters and enhancers; regulates transcription elongation by paused RNA polymerase II114 |
| CHOPS | AFF4 | It is a scaffold protein comprising the core component of the super elongation complex82 |
| CSS | ARID1B, ARID1A, ARID2, DPF2, SMARCB1, SMARCA4, SMARCE1, SOX11 | They are subunits of the ATP‐dependent SWI/SNF (SWItch/sucrose non‐fermentable) chromatin remodelling complex involved in transcription115 |
| KBG | ANKRD11 | It is associated with transcription through chromatin modification116 |
| RSTS | EP300 | It functions as histone acetyltransferase that regulates transcription via chromatin remodelling117 |
| WDSTS | KMT2A | It is a histone methyltransferase that regulates chromatin-mediated transcription118 |