TCOF1 and Bowen-Conradi syndrome: These gene sets include the genes EMG1 N1-specific pseudouridine methyltransferase (Emg1), which is associated with the Bowen-Conradi syndrome (59), Treacle (Tcof1), which is associated with Treacher Collins syndrome as well as the Diamond-Blackfan anemia associated Ribosomal protein L11 (Rpl11), Rpl35a, Ribosomal protein S17 (Rps17) and Rps24 (60).