AKT1 and Menkes disease: Accordingly, pGenes are enriched in their association with pathways that have been reported as disrupted in MD such as MAPK (Wang et al., 2020), ErbB (Ledonne and Mercuri, 2020), PI3K/AKT (Matsuda et al., 2019) and ERK (Wang and Mao, 2019) signalling pathways (Supplementary Table S13); as well as MD potential causes like stress or inflammation (Shadrina et al., 2018; Li Z. et al., 2021).