Specific granule deficiency
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Specific granule deficiency | C0398593 | CEBPE | Causal Pathogenic evidence from ClinVar | 10359588, 28369034, 29651288 | ClinVar |
| SMARCD2 | Causal Pathogenic evidence from ClinVar | 28369034, 28369036 | ClinVar | ||
| SPECIFIC GRANULE DEFICIENCY 1 | C4551556 | CEBPE | Causal Pathogenic evidence from ClinVar | 10359588, 29651288 | ClinVar |
| SMARCD2 | Causal Pathogenic evidence from ClinVar | 28369036 | ClinVar | ||
| SPECIFIC GRANULE DEFICIENCY 2 | C4479548 | CEBPE | Causal Pathogenic evidence from ClinVar | 10359588 | ClinVar |
| SMARCD2 | Causal Pathogenic evidence from ClinVar | 28369036 | ClinVar |