KRT5, keratin 5, 3852

N. diseases: 203; N. variants: 58
Disease: Epidermolysis Bullosa Herpetiformis Dowling-Meara ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs59190510
rs59190510
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.710 GeneticVariation BEFREE Epidermolysis bullosa simplex-generalized severe type due to keratin 5 p.Glu477Lys mutation: Genotype-phenotype correlation and in silico modeling analysis. 30515866 2019
dbSNP: rs59190510
rs59190510
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.710 GeneticVariation UNIPROT Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. 21623745 2011
dbSNP: rs59190510
rs59190510
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.710 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: rs59190510
rs59190510
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.710 GeneticVariation UNIPROT Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. 16882168 2006
dbSNP: rs59190510
rs59190510
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.710 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: rs59190510
rs59190510
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.710 GeneticVariation UNIPROT Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential. 10730767 2000
dbSNP: rs59190510
rs59190510
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.710 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: rs59190510
rs59190510
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.710 GeneticVariation UNIPROT A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara. 9406827 1997
dbSNP: rs59190510
rs59190510
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.710 GeneticVariation UNIPROT Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients. 9036937 1997
dbSNP: rs59190510
rs59190510
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.710 GeneticVariation UNIPROT A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex. 8757772 1996
dbSNP: rs59190510
rs59190510
Entrez Id: 3852
Gene Symbol: KRT5
KRT5
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.710 GeneticVariation UNIPROT A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. 1372711 1992