Shwachman syndrome
| Disease Term | Disease ID | Gene Symbol | References |
|---|---|---|---|
| Shwachman syndrome | C0272170 | SRP54 | 28972538 |
| SBDS | 15701631, 21695142, 17475909, 12496757, 15284109, 14749921, 26081292, 29753700, 29375851, 17916435, 15769891, 23602541, 28297620, 24898207, 23351992, 22934832, 15860664, 23115272, 24629175, 25729736, 24388329, 22510201, 25844324, 15342903, 22935661 | ||
| TYW1 | |||
| EFL1 | 28331068 | ||
| DNAJC21 | 28062395 | ||
| SHWACHMAN-DIAMOND SYNDROME 2 | C4693704 | EFL1 | 29970384, 28331068 |