Epidermolysis Bullosa Simplex With Pyloric Atresia Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Epidermolysis bullosa simplex with pyloric atresia (EBS-PA) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized severe blistering with widespread congenital absence of skin and pyloric atresia. (Orphanet Rare Disease Ontology, Orphanet_158684)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C567408
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Genes

1 genes/proteins associated with the disease Epidermolysis Bullosa Simplex With Pyloric Atresia from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
PLEC plectin 2.88009