Shwachman-diamond syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| SHWACHMAN-DIAMOND SYNDROME | DNAJC21 | Unknown | CTD GWAS catalog Orphanet | ||
| EFL1 | Unknown | Disgenet Orphanet | |||
| EIF6 | Unknown | GenCC | |||
| SBDS | Unknown | CTD ClinGen Disgenet Orphanet | |||
| SRP54 | Unknown | CTD Disgenet | |||
| SRPRA | Unknown | GWAS catalog | |||
| SHWACHMAN-DIAMOND SYNDROME 1 | DNAJC21 | Causal | — | ClinVar Disgenet HPO | |
| SBDS | Causal | — | ClinVar Disgenet GenCC HPO | ||
| SRP19 | Causal | — | Disgenet | ||
| SRP54 | Causal | — | ClinVar Disgenet HPO | ||
| SRPRA | Causal | — | Disgenet | ||
| SHWACHMAN-DIAMOND SYNDROME 2 | EFL1 | Causal | — | ClinVar Disgenet GenCC HPO |