Spondyloenchondrodysplasia with immune dysregulation
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION | C1842763 | ACP5 | Causal Pathogenic evidence from ClinVar | 13524805, 21217752, 21217755, 26951490 | ClinVar |
| ZNF627 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 21217752 | - |