Netherton syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Ichthyosis linearis circumflexa | C0265962 | SPINK5 | Causal Pathogenic evidence from ClinVar | 10835624, 11511292, 11841556, 20657595, 22089833, 22377713, 25665175, 26865388, 28289593 | ClinVar |
| ST14 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 20657595 | - | ||
| Netherton syndrome | 634 | SPINK5 | Causal Pathogenic evidence from ClinVar | - | ClinVar |