Bone marrow failure syndromes
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| BONE MARROW FAILURE DISORDERS | CSF2 | Unknown | CTD Disgenet | ||
| BONE MARROW FAILURE SYNDROME | NPM1 | Unknown | ClinGen GWAS catalog | ||
| BONE MARROW FAILURE SYNDROME 1 | SRP72 | Unknown | — | Disgenet HPO | |
| BONE MARROW FAILURE SYNDROME 2 | ERCC6L2 | Unknown | — | Disgenet HPO | |
| GCK | Unknown | — | Disgenet | ||
| BONE MARROW FAILURE SYNDROME 3 | DNAJC21 | Causal | ClinGen ClinVar Disgenet GWAS catalog HPO | ||
| BONE MARROW FAILURE SYNDROME 4 | MYSM1 | Causal | ClinGen ClinVar Disgenet HPO | ||
| BONE MARROW FAILURE SYNDROME 5 | TP53 | Causal | — | ClinVar Disgenet GenCC HPO | |
| BONE MARROW FAILURE SYNDROME 6 | MDM4 | Unknown | ClinGen ClinVar Disgenet HPO |