KRT5, keratin 5, 3852

N. diseases: 203; N. variants: 58
Disease: Epidermolysis bullosa simplex herpetiformis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0432315
Disease: Epidermolysis bullosa simplex herpetiformis
Epidermolysis bullosa simplex herpetiformis 		0.010 GeneticVariation disease BEFREE Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex. 10234505 1999