The two most significant gene associations with MD were RPL31P12 (GTEx brain cerebellum, Z = −10.68, P = 1.27 × 10−26) and NEGR1 (GTEx brain caudate basal ganglia, Z = 10.677, P = 1.30 × 10−26), consistent with previous findings33. The gene discussed is RPL31P12; the disease is Menkes disease.