KRT5, keratin 5, 3852

N. diseases: 203; N. variants: 58
Disease: Epidermolysis Bullosa ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		0.330 Biomarker disease BEFREE Cytokeratin 5/6 was visible above the blister in all cases of dystrophic and junctional types EB. 27941563 2018
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		0.330 GeneticVariation disease BEFREE The simplex form of EB is usually caused by dominantly inherited mutations in KRT5 or KRT14. 20571545 2010
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		0.330 GeneticVariation disease LHGDN Novel keratin 5 mutations in epidermolysis bullosa simplex: cases with unusual genotype-phenotype correlation. 17855059 2007
CUI: C0014527
Disease: Epidermolysis Bullosa
Epidermolysis Bullosa 		0.330 Biomarker disease GENOMICS_ENGLAND Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. 16465624 2006