Disease Term Disease ID Gene Symbol Classification References Source
Baller-Gerold syndrome 1225, C0265308 RECQL4 Causal Pathogenic evidence from ClinVar 9934984, 10319867, 10678659, 12734318, 12838562, 12952869, 15897384, 15964893, 18504617, 18716613, 19291770, 21143835, 21418107, 23238538, 23899764, 24518840, 24635570, 25120469, 27247962, 28039508, 28486640 ClinVar