Most significant enrichment was observed for NF1 (P = 0.000477, OR = 22.8), the gene causal for neurofibromatosis type 1 (NF1), followed by TRPM5, AP5B1, DNMT3L and ARFGEF1 (Supplementary Data 6). This evidence concerns the gene AP5B1 and neurofibromatosis type 1.