Previous symbols: EBDCT, EBD1, EBR1.
Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.
| Disorder | Relationship | Where the gene appears |
|---|---|---|
| Dystrophic Epidermolysis Bullosa | causative germline |
mechanism: Biallelic COL7A1 Pathogenic Variants (RDEB); COL7A1 Mutations and Loss of Type VII Collagen; Chronic Wounds and Aggressive Squamous Cell Carcinoma; Heterozygous COL7A1 Pathogenic Variant (DDEB)
subtype: DDEB; RDEB-Inversa; RDEB-intermediate; RDEB-sev gen
|
| Epidermolysis Bullosa |
untyped
Causative
|
mechanism: Basement Membrane Zone Structural Disruption
treatment: Vyjuvek (Beremagene Geperpavec); Zevaskyn (Prademagene Zamikeracel / pz-cel)
|
| Acquired Epidermolysis Bullosa | no genetic record |
mechanism: Autoantibody Binding to Type VII Collagen at the Dermal-Epidermal Junction
|
| Mucous Membrane Pemphigoid | no genetic record |
mechanism: Anti-Basement Membrane Zone Autoantibody Production
|
An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.
| ClinGen disease | MOI | Classification | dismech entry |
|---|---|---|---|
| recessive dystrophic epidermolysis bullosa MONDO:0009179 | AR | Definitive 2022-06-20 |
Dystrophic Epidermolysis Bullosa
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.