P2RX2 and Bartsocas-Papas syndrome 1: We compared the expression levels of each gene in the patient groups and showed that TPPP3, SMTN, ANGPTL7, CLEC3B, PALM, NCALD, P2RX2, and NRXN2 are significantly up-regulated in BPS compared to control and DO; FAT1 was up-regulated in BPS and down-regulated in DO compared to control; AIM1 was down-regulated in both DO and BPS compared to controls; and FAM83A was significantly down-regulated in BPS (Figure S8).