Functional over-representation analysis revealed that upregulated genes in ALS were enriched in the DNA damage response (hypergeometric FDR = 2.2 × 10−5; SESN1, RRM2B, TNFRSF10B) and p53 signalling (FDR = 2.7 × 10−5; CDKN1A [p21], TP53TG3E, FBXO22) whereas downregulated genes were overrepresented by DNA-binding transcription factor activity (FDR = 0.003; MYOG, TBX5, POU5F1) and ventral spinal cord development (FDR = 0.004; LMO4, OLIG2, FOXN4; Fig. 2b). This evidence concerns the gene CDKN1A and amyotrophic lateral sclerosis.