In the manual-method-derived Fabry samples (Fig 6C), gene ontology analysis revealed significant enrichment in pathways such as TGF-β binding and receptor signaling, SMAD binding, PI3K-Akt signaling, and phosphatidylinositol-3-phosphate binding, which are known to be associated with FD [22, 23]. The gene discussed is TGFB1; the disease is Fabry disease.