Shwachman-diamond syndrome
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| SHWACHMAN SYNDROME | EFL1 | Causal | — | Disgenet | ||
| SBDS | Causal | — | ClinVar, Disgenet | |||
| SHWACHMAN-DIAMOND SYNDROME 1 | DNAJC21 | Causal | — | ClinVar, Disgenet, HPO | — | |
| SBDS | Causal | ClinVar, Disgenet, GenCC, HPO, ClinGen | ||||
| SRP19 | Causal | — | Disgenet | |||
| SRP54 | Causal | — | ClinVar, Disgenet, HPO | |||
| SRPRA | Causal | — | Disgenet | |||
| SHWACHMAN-DIAMOND SYNDROME 2 | EFL1 | Causal | ClinVar, Disgenet, GenCC, HPO, ClinGen |