Through GO enrichment analysis, we found that in terms of the biological process (BP), the enriched functional gene set associated with hyperthyroidism in children was most significant for function “response to peptide hormone” with the p.adjust value of 9.01×10-7 and the corresponding gene set with mutations included 19 genes: CPS1, LRP6, TSC2, KANK1, COL1A1, CDKN1B, POMC, STAT1, MEN1, APC, GHRL, TSHR, GJB2, FBN1, GPT, LEP, ADIPOQ, INS, GH1. This evidence concerns the gene CDKN1B and hyperthyroidism.