Generalized dominant dystrophic epidermolysis bullosa Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Generalized dominant dystrophic epidermolysis bullosa (DDEB-gen) is a subtype of dystrophic epidermolysis bullosa (DEB, see this term), formerly known as DDEB, Pasini and Cockayne-Touraine types, characterized by generalized blistering, milia formation, atrophic scarring, and dystrophic nails. (Orphanet Rare Disease Ontology, Orphanet_231568)
External Link http://www.omim.org/entry/131750
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Genes

1 genes associated with the Generalized dominant dystrophic epidermolysis bullosa phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
COL7A1 collagen, type VII, alpha 1