KRT5, keratin 5, 3852

N. diseases: 203; N. variants: 58
Disease: Epidermolysis Bullosa Simplex ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1565593355
rs1565593355
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079298
Disease:
Epidermolysis Bullosa Simplex 		A 0.700 GeneticVariation CLINVAR Identification of novel and known KRT5 and KRT14 mutations in 53 patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. 20199538 2010
dbSNP: rs1565593355
rs1565593355
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079298
Disease:
Epidermolysis Bullosa Simplex 		A 0.700 GeneticVariation CLINVAR Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease. 16465624 2006