Notably, PTHS exhibited the highest percent of DMPs overlapping with BRG1/BRM-associated factor (BAFopathy) (4%, including ARID1A, ARID1B, SMARCB1, SMARCA2, and SMARCA4) and coloboma, heart anomaly, choanal atresia, retardation, genital and ear anomalies (CHARGE) (4%, CHD7) (Figures 4B and S6). The gene discussed is SMARCA4; the disease is coloboma.