KRT14, keratin 14, 3861

N. diseases: 173; N. variants: 47
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28928893
rs28928893
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.810 GeneticVariation UNIPROT Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. 16882168 2006
dbSNP: rs28928893
rs28928893
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.810 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: rs28928893
rs28928893
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.810 GeneticVariation BEFREE At age 2 years, patients carrying the p.M119T mutation still suffered from severe EBS-DM, whereas the patient harboring the c.1246delC mutation has improved over time. 16439965 2006
dbSNP: rs28928893
rs28928893
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.810 GeneticVariation UNIPROT Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex. 14987259 2004
dbSNP: rs28928893
rs28928893
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.810 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: rs28928893
rs28928893
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.810 GeneticVariation UNIPROT Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients. 12603865 2003
dbSNP: rs28928893
rs28928893
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.810 GeneticVariation UNIPROT Epidermolysis bullosa simplex in Israel: clinical and genetic features. 12707098 2003
dbSNP: rs28928893
rs28928893
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.810 GeneticVariation UNIPROT Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes. 11710919 2001
dbSNP: rs28928893
rs28928893
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.810 GeneticVariation UNIPROT Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential. 10730767 2000
dbSNP: rs28928893
rs28928893
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.810 GeneticVariation UNIPROT Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis. 10733662 2000
dbSNP: rs28928893
rs28928893
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.810 GeneticVariation UNIPROT DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex. 10820403 2000
dbSNP: rs28928893
rs28928893
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.810 GeneticVariation UNIPROT A recurrent keratin 14 mutation in Dowling-Meara epidermolysis bullosa simplex. 10583131 1999
dbSNP: rs28928893
rs28928893
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.810 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: rs28928893
rs28928893
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.810 GeneticVariation UNIPROT Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14). 9804355 1998
dbSNP: rs28928893
rs28928893
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.810 GeneticVariation UNIPROT Genetic analysis of a severe case of Dowling-Meara epidermolysis bullosa simplex. 8601736 1996
dbSNP: rs28928893
rs28928893
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.810 GeneticVariation UNIPROT Keratin 14 gene mutations in patients with epidermolysis bullosa simplex. 7561171 1995
dbSNP: rs28928893
rs28928893
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.810 GeneticVariation UNIPROT A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis. 7688405 1993
dbSNP: rs28928893
rs28928893
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.810 GeneticVariation UNIPROT Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. 1717157 1991
dbSNP: rs28928893
rs28928893
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		G 0.810 CausalMutation CLINVAR
dbSNP: rs57364972
rs57364972
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
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: rs57364972
rs57364972
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
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: rs57364972
rs57364972
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.800 GeneticVariation UNIPROT Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex. 14987259 2004
dbSNP: rs57364972
rs57364972
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.800 GeneticVariation UNIPROT Epidermolysis bullosa simplex in Israel: clinical and genetic features. 12707098 2003
dbSNP: rs57364972
rs57364972
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079295
Disease:
Epidermolysis Bullosa Herpetiformis Dowling-Meara 		0.800 GeneticVariation UNIPROT Long-range polymerase chain reaction for specific full-length amplification of the human keratin 14 gene and novel keratin 14 mutations in epidermolysis bullosa simplex patients. 12603865 2003
dbSNP: rs57364972
rs57364972
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
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