Using differential analysis, precise machine learning methods, and functional association analysis, they discovered RET protein’s key role in AMS pathogenesis and prioritized ADAM15, PHGDH, TRAF2, and TRAF2 as protective, predictive, and diagnostic biomarkers through an XGBoost model (AUC > 0.9). Here, TRAF2 is linked to ablepharon macrostomia syndrome.