Epidermolysis bullosa simplex with mottled pigmentation Gene Set

Dataset CTD Gene-Disease Associations
Category disease or phenotype associations
Type disease
Description Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation. (Orphanet Rare Disease Ontology, Orphanet_79397)
External Link http://ctdbase.org/detail.go?type=disease&acc=MESH:C535959
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Genes

1 genes/proteins associated with the disease Epidermolysis bullosa simplex with mottled pigmentation from the curated CTD Gene-Disease Associations dataset.

Symbol Name Standardized Value
KRT5 keratin 5, type II 2.88009