Disease Term Disease ID Gene Symbol References
Aase Smith syndrome 2 C2931850 GATA1 22706301, 24952648
RPL5 19191325, 19061985
RPL15 23812780
RPL18 28280134
RPL26 22431104
RPL27 25424902
RPS10 22863883
RPS15A 27909223
RPS24 22939629
RPS27 25424902
RPS28 24942156
RPS29 24829207
RPL35 28280134
ADA2 30503522
TSR2 24942156
DIPK1A
Aase syndrome C0265265 RPS24 23812780, 17186470, 18230666, 25946618, 22939629, 19773262