KRT5, keratin 5, 3852

N. diseases: 203; N. variants: 58
Disease: Weber-Cockayne Syndrome ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs56922686
rs56922686
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0080333
Disease:
Weber-Cockayne Syndrome 		0.010 GeneticVariation BEFREE We described a family with EBS-WC caused by a novel autosomal dominant mutation (G476D) in the keratin 5 gene. 17549391 2007