Examples include downregulated genes gss (logFC −1.4; p < 4E−26; Glutathione synthetase deficiency) and aaas (logFC −1.2; p < 1.8E−12; Achalasia-addisonianism-alacrimia syndrome) and upregulated genes ggt1b (logFC 2.9; p < 3.7E−06; ID); and eftud2 (logFC 1.5; p < 1E−142; Mandibulofacial dysostosis; Wald test, FDR-corrected using the Benjamini–Hochberg method; Table 2). The gene discussed is EFTUD2; the disease is mandibulofacial dysostosis.