KRT5, keratin 5, 3852

N. diseases: 203; N. variants: 58
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs57499817
rs57499817
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0432316
Disease:
Epidermolysis bullosa simplex with mottled pigmentation 		0.850 GeneticVariation UNIPROT Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. 21623745 2011
dbSNP: rs57499817
rs57499817
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0432316
Disease:
Epidermolysis bullosa simplex with mottled pigmentation 		0.850 GeneticVariation BEFREE Our report extends the limited number of EBS-MP cases and gives further evidence that mutation P25L is responsible for this unusual phenotype. 17229601 2007
dbSNP: rs57499817
rs57499817
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0432316
Disease:
Epidermolysis bullosa simplex with mottled pigmentation 		0.850 GeneticVariation BEFREE Instead, they have been associated with several distinct clinical phenotypes, such as epidermolysis bullosa simplex with mottled pigmentation (mutation P25L in the V1 domain of keratin 5), epidermolysis bullosa simplex with migratory circinate erythema (frameshift mutation c1649delG in the V2 domain of keratin 5), striate palmoplantar keratoderma (PPK), and ichthyosis hystrix Curth-Macklin (different frameshift mutations in the V2 domain of keratin 1 (K1)). 16417221 2006
dbSNP: rs57499817
rs57499817
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0432316
Disease:
Epidermolysis bullosa simplex with mottled pigmentation 		0.850 GeneticVariation BEFREE In both families, the heterozygous transition mutation 74C-->T of the keratin 5 gene, which results in amino acid substitution P25L, completely co-segregated with the EBS-MP phenotype. 16581562 2006
dbSNP: rs57499817
rs57499817
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0432316
Disease:
Epidermolysis bullosa simplex with mottled pigmentation 		0.850 GeneticVariation UNIPROT Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. 16882168 2006
dbSNP: rs57499817
rs57499817
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0432316
Disease:
Epidermolysis bullosa simplex with mottled pigmentation 		0.850 GeneticVariation BEFREE It is possible that EBS-MP occurs not only based on the P25L mutation of the keratin 5 molecule, but also because of other types of mutations of epidermal keratin genes. 15982306 2005
dbSNP: rs57499817
rs57499817
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0432316
Disease:
Epidermolysis bullosa simplex with mottled pigmentation 		0.850 GeneticVariation UNIPROT Recently, a 71C-->T transition in the keratin 5 gene (KRT5) causing a P24L substitution was identified in some patients with EBS-MP. 10494094 1999
dbSNP: rs57499817
rs57499817
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0432316
Disease:
Epidermolysis bullosa simplex with mottled pigmentation 		0.850 GeneticVariation BEFREE Recently, a 71C-->T transition in the keratin 5 gene (KRT5) causing a P24L substitution was identified in some patients with EBS-MP. 10494094 1999
dbSNP: rs57499817
rs57499817
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0432316
Disease:
Epidermolysis bullosa simplex with mottled pigmentation 		0.850 GeneticVariation UNIPROT The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. 8799157 1996
dbSNP: rs57499817
rs57499817
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0432316
Disease:
Epidermolysis bullosa simplex with mottled pigmentation 		A 0.850 CausalMutation CLINVAR
dbSNP: rs121912475
rs121912475
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 Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. 21623745 2011
dbSNP: rs57890479
rs57890479
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		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: rs60715293
rs60715293
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		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: rs61348633
rs61348633
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		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: rs121912475
rs121912475
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 Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. 16882168 2006
dbSNP: rs57890479
rs57890479
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.800 GeneticVariation UNIPROT Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly. 16786515 2006
dbSNP: rs57890479
rs57890479
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.800 GeneticVariation UNIPROT Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. 16882168 2006
dbSNP: rs60715293
rs60715293
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.800 GeneticVariation UNIPROT Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. 16882168 2006
dbSNP: rs60715293
rs60715293
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.800 GeneticVariation UNIPROT Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly. 16786515 2006
dbSNP: rs61348633
rs61348633
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.800 GeneticVariation UNIPROT Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. 16882168 2006
dbSNP: rs61348633
rs61348633
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.800 GeneticVariation UNIPROT Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly. 16786515 2006
dbSNP: rs57890479
rs57890479
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.800 GeneticVariation UNIPROT Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations. 12655565 2003
dbSNP: rs60715293
rs60715293
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.800 GeneticVariation UNIPROT Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations. 12655565 2003