KRT5, keratin 5, 3852

N. diseases: 203; N. variants: 58
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3715082
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 		0.400 CausalMutation disease CLINVAR
CUI: C3715082
Disease: EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 		0.400 GeneticVariation disease UNIPROT Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly. 11973334 2002