rs60715293, KRT5

N. diseases: 2
Disease: Epidermolysis Bullosa Simplex ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Epidermolysis Bullosa Simplex
CUI: C0079298
Disease: Epidermolysis Bullosa Simplex
0.010 GeneticVariation BEFREE Here, using a systemic screening system based on a luciferase reporter gene assay, we have developed mutant-specific siRNAs for two independent EBS-causing missense mutations in the K5 gene (p.Ser181Pro and p.Asn193Lys). 21716320 2011