The diagnostic efficacy of UBE2T, KIF4A, CDCA3, and CDCA5 on the validation dataset were evaluated, and the AUCs were more than 0.78 (Fig. 6C and D), suggesting that the model exhibits high sensitivity and specificity in distinguishing among NL, CAH-B, LC, and HCC group. The gene discussed is UBE2T; the disease is congenital adrenal hyperplasia.