Inflammatory skin and bowel disease
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1 | C3280501 | ADAM17 | Causal Pathogenic evidence from ClinVar | 20603312, 22236242 | ClinVar |
| Neonatal inflammatory skin and bowel disease | 294023, C4751120 | ADAM17 | Causal Pathogenic evidence from ClinVar | 22010916 | ClinVar |
| EGFR | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 24691054 | - | ||
| INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 2 | C4015130 | EGFR | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 24691054, 26436111 | - |