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: rs1299888635
rs1299888635
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0432316
Disease:
Epidermolysis bullosa simplex with mottled pigmentation 		0.010 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: rs1457403673
rs1457403673
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0020757
Disease:
Ichthyoses 		0.010 GeneticVariation BEFREE Here we generated a novel, viable, and fertile mouse (Cx26<sup>CK14-S17F/+</sup>) with the keratitis-ichthyosis-deafness mutant (Cx26S17F) driven by the cytokeratin 14 promoter. 28569788 2017
dbSNP: rs1457403673
rs1457403673
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0020758
Disease:
Congenital ichthyosis 		0.010 GeneticVariation BEFREE Here we generated a novel, viable, and fertile mouse (Cx26<sup>CK14-S17F/+</sup>) with the keratitis-ichthyosis-deafness mutant (Cx26S17F) driven by the cytokeratin 14 promoter. 28569788 2017
dbSNP: rs1457403673
rs1457403673
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0022568
Disease:
Keratitis 		0.010 GeneticVariation BEFREE Here we generated a novel, viable, and fertile mouse (Cx26<sup>CK14-S17F/+</sup>) with the keratitis-ichthyosis-deafness mutant (Cx26S17F) driven by the cytokeratin 14 promoter. 28569788 2017
dbSNP: rs1457403673
rs1457403673
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0037268
Disease:
Skin Abnormalities 		0.010 GeneticVariation BEFREE Disease-linked connexin26 S17F promotes volar skin abnormalities and mild wound healing defects in mice. 28569788 2017
dbSNP: rs147611635
rs147611635
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079299
Disease:
Epidermolysis Bullosa Simplex Kobner 		0.700 GeneticVariation UNIPROT
dbSNP: rs200779504
rs200779504
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C3715082
Disease:
EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 		G 0.700 CausalMutation CLINVAR
dbSNP: rs267607390
rs267607390
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0343111
Disease:
Naegeli syndrome 		G 0.700 CausalMutation CLINVAR
dbSNP: rs267607391
rs267607391
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0343111
Disease:
Naegeli syndrome 		A 0.700 CausalMutation CLINVAR
dbSNP: rs267607392
rs267607392
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079298
Disease:
Epidermolysis Bullosa Simplex 		0.010 GeneticVariation BEFREE Novel mutations were found in two patients with the EBS-Dowling-Meara variant (EBS-DM) [KRT14-p.Ser128Pro and KRT14-p.Gln374_Leu387dup(14)] and in three patients with localized EBS (KRT14-p.Leu136Pro and KRT5-p.Val143Ala). 20030639 2010
dbSNP: rs267607396
rs267607396
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079298
Disease:
Epidermolysis Bullosa Simplex 		0.010 GeneticVariation BEFREE Novel mutations were found in two patients with the EBS-Dowling-Meara variant (EBS-DM) [KRT14-p.Ser128Pro and KRT14-p.Gln374_Leu387dup(14)] and in three patients with localized EBS (KRT14-p.Leu136Pro and KRT5-p.Val143Ala). 20030639 2010
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 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 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 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 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 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 		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 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 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 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 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 Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex. 14987259 2004