Disease Term Disease ID Gene Symbol References
SHWACHMAN-DIAMOND SYNDROME 1 C4692625 SRP54 28972538
SBDS 14749921, 24629175, 24388329, 12496757, 25525159, 22935661, 22934832, 24898207, 21536732, 21695142, 19148133, 15860664
TYW1
Shwachman-Diamond syndrome 811 SBDS
EFL1
SRP54
DNAJC21