Autoinflammation, antibody deficiency, and immune dysregulation
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION, PLCG2-ASSOCIATED | C3553961 | PLCG2 | Causal Pathogenic evidence from ClinVar | 22236196, 23000145, 29538758 | ClinVar |
| Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation | 324530 | PLCG2 | Causal Pathogenic evidence from ClinVar | - | ClinVar |