Congenital neutropenia, myelofibrosis, nephromegaly syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Congenital neutropenia, myelofibrosis, nephromegaly syndrome | C4755251 | VPS45 | Causal Pathogenic evidence from ClinVar | 23599270 | ClinVar |
| Congenital neutropenia-myelofibrosis-nephromegaly syndrome | 369852 | VPS45 | Causal Pathogenic evidence from ClinVar | - | ClinVar |
| RBSN | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |