Olmsted syndrome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Olmsted syndrome | C2609071 | MBTPS2 | Causal Pathogenic evidence from ClinVar | 22931912 | ClinVar |
| TRPV3 | Causal Pathogenic evidence from ClinVar | 22405088, 22835024, 25285920 | ClinVar | ||
| PERP | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 30321533 | - |