Dystrophic epidermolysis bullosa
Pathways column key:
KEGG
Reactome
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source | Pathways |
|---|---|---|---|---|---|---|
| EPIDERMOLYSIS BULLOSA DYSTROPHICA | COL7A1 | Causal | CTD, ClinVar, Disgenet | |||
| EPIDERMOLYSIS BULLOSA DYSTROPHICA INVERSA, AUTOSOMAL RECESSIVE | COL7A1 | Causal | — | Disgenet | ||
| EPIDERMOLYSIS BULLOSA DYSTROPHICA, AUTOSOMAL RECESSIVE, LOCALISATA VARIANT | COL7A1 | Causal | — | Disgenet | ||
| EPIDERMOLYSIS BULLOSA PRURIGINOSA | COL7A1 | Causal | — | CTD, ClinVar, Disgenet, HPO | ||
| PRETIBIAL DYSTROPHIC EPIDERMOLYSIS BULLOSA | COL7A1 | Causal | — | ClinVar, GenCC | ||
| RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA | COL7A1 | Causal | — | ClinGen, ClinVar, GenCC |