KRT5, keratin 5, 3852

N. diseases: 203; N. variants: 58
Disease: Epidermolysis Bullosa Simplex Kobner ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs57599352
rs57599352
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079299
Disease:
Epidermolysis Bullosa Simplex Kobner 		0.800 GeneticVariation UNIPROT Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. 21623745 2011
dbSNP: rs57599352
rs57599352
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079299
Disease:
Epidermolysis Bullosa Simplex Kobner 		0.800 GeneticVariation UNIPROT Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. 16882168 2006
dbSNP: rs57599352
rs57599352
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079299
Disease:
Epidermolysis Bullosa Simplex Kobner 		0.800 GeneticVariation UNIPROT A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes. 11407988 2001
dbSNP: rs57599352
rs57599352
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079299
Disease:
Epidermolysis Bullosa Simplex Kobner 		0.800 GeneticVariation UNIPROT Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype. 9989794 1999
dbSNP: rs57599352
rs57599352
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079299
Disease:
Epidermolysis Bullosa Simplex Kobner 		0.800 GeneticVariation UNIPROT A novel mutation in the L12 domain of keratin 5 in the Köbner variant of epidermolysis bullosa simplex. 9740251 1998
dbSNP: rs57599352
rs57599352
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079299
Disease:
Epidermolysis Bullosa Simplex Kobner 		0.800 GeneticVariation UNIPROT Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function. 7534039 1995
dbSNP: rs57599352
rs57599352
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079299
Disease:
Epidermolysis Bullosa Simplex Kobner 		0.800 GeneticVariation UNIPROT Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex. 7686424 1993
dbSNP: rs57599352
rs57599352
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079299
Disease:
Epidermolysis Bullosa Simplex Kobner 		G 0.800 CausalMutation CLINVAR