From the RNA-Seq data set, we also generated a Pompe disease signature that consisted of the top 50% of altered genes with |log2FC| ≥ 2 and padj < 0.05, of which 243 were downregulated and 39 were upregulated in GAA−/− vs. WT mice (Supplementary Data 1a, b). The gene discussed is GAA; the disease is glycogen storage disease II.