KRT5, keratin 5, 3852

N. diseases: 203; N. variants: 58
Disease: Weber-Cockayne Syndrome ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		0.760 GeneticVariation disease BEFREE A novel de novo mutation p.Ala428Asp in KRT5 gene as a cause of localized epidermolysis bullosa simplex. 30240119 2019
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		0.760 GeneticVariation disease UNIPROT Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. 21623745 2011
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		0.760 GeneticVariation disease BEFREE A new pathogenic keratin 5 mutation in a Hindoestan family with localized epidermolysis bullosa simplex. 19797037 2010
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		0.760 GeneticVariation disease BEFREE We described a family with EBS-WC caused by a novel autosomal dominant mutation (G476D) in the keratin 5 gene. 17549391 2007
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		0.760 GeneticVariation disease 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
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		0.760 GeneticVariation disease UNIPROT Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. 16882168 2006
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		0.760 GeneticVariation disease UNIPROT A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype. 15140024 2004
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		0.760 GeneticVariation disease UNIPROT A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex. 15347343 2004
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		0.760 GeneticVariation disease UNIPROT A new keratin 5 mutation (K199T) in a family with Weber-Cockayne epidermolysis bullosa simplex. 14723728 2004
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		0.760 GeneticVariation disease BEFREE A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex. 15347343 2004
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		0.760 GeneticVariation disease BEFREE A new keratin 5 mutation (K199T) in a family with Weber-Cockayne epidermolysis bullosa simplex. 14723728 2004
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		0.760 GeneticVariation disease UNIPROT Epidermolysis bullosa simplex in Israel: clinical and genetic features. 12707098 2003
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		0.760 GeneticVariation disease UNIPROT Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations. 12655565 2003
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		0.760 GeneticVariation disease UNIPROT K5 D328E: a novel missense mutation in the linker 12 domain of keratin 5 associated with epidermolysis bullosa simplex (Weber-Cockayne). 10782015 2000
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		0.760 GeneticVariation disease UNIPROT Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex. 9804357 1998
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		0.760 GeneticVariation disease UNIPROT Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland. 8807337 1996
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		0.760 GeneticVariation disease UNIPROT Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to Val in Linker 12 domain of keratin 5. 8595431 1995
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		0.760 GeneticVariation disease UNIPROT Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex. 7520042 1994
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		0.760 Biomarker disease BEFREE Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex. 7520042 1994
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		0.760 GeneticVariation disease UNIPROT The genetic basis of Weber-Cockayne epidermolysis bullosa simplex. 7688477 1993
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		0.760 GeneticVariation disease UNIPROT Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function. 7506097 1993
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		0.760 Biomarker disease GENOMICS_ENGLAND
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		0.760 Biomarker disease GENOMICS_ENGLAND
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		0.760 Biomarker disease CTD_human
CUI: C0080333
Disease: Weber-Cockayne Syndrome
Weber-Cockayne Syndrome 		0.760 CausalMutation disease CLINVAR