We also found downregulation of EGF/EGFR signalling pathways in PC (genes for which include RPS6KA2, ASAP1, MEF2D and EGFR, Fig. 3H, Supplementary File 3), an expected consequence of downregulation of VEGF-VEGFR2 signalling40. The gene discussed is MEF2D; the disease is pachyonychia congenita.