Epidermolysis bullosa simplex with nail dystrophy
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| EPIDERMOLYSIS BULLOSA SIMPLEX WITH NAIL DYSTROPHY | C4225309 | PLEC | Causal Pathogenic evidence from ClinVar | 8830774, 10652002, 15654962, 19945614, 23289980 | ClinVar |
| Localized dystrophic epidermolysis bullosa, nails only | 158676 | COL7A1 | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | - | - |