KRT5, keratin 5, 3852

N. diseases: 203; N. variants: 58
Disease: Epidermolysis bullosa simplex with mottled pigmentation ×
Source: ALL
Disease Type Disease Class Semantic Type N. genes d N. SNPs d Score gda EL gda EI gda N. PMIDs N. SNPs gda First Ref. Last Ref.
CUI: C0432316
Disease: Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex with mottled pigmentation 		disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality 5 3 0.780 strong 1.000 11 2 1996 2014