Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079299
Disease: Epidermolysis Bullosa Simplex Kobner
Epidermolysis Bullosa Simplex Kobner 		0.750 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
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079299
Disease: Epidermolysis Bullosa Simplex Kobner
Epidermolysis Bullosa Simplex Kobner 		0.750 GeneticVariation UNIPROT Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes. 11710919

2001
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079299
Disease: Epidermolysis Bullosa Simplex Kobner
Epidermolysis Bullosa Simplex Kobner 		0.750 GeneticVariation UNIPROT Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis. 10733662

2000
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079299
Disease: Epidermolysis Bullosa Simplex Kobner
Epidermolysis Bullosa Simplex Kobner 		0.750 GeneticVariation UNIPROT DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex. 10820403

2000
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079299
Disease: Epidermolysis Bullosa Simplex Kobner
Epidermolysis Bullosa Simplex Kobner 		0.750 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
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079299
Disease: Epidermolysis Bullosa Simplex Kobner
Epidermolysis Bullosa Simplex Kobner 		0.750 GeneticVariation UNIPROT A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex. 7526926

1994
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079299
Disease: Epidermolysis Bullosa Simplex Kobner
Epidermolysis Bullosa Simplex Kobner 		0.750 GeneticVariation UNIPROT A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex. 7682883

1993
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
CUI: C0079299
Disease: Epidermolysis Bullosa Simplex Kobner
Epidermolysis Bullosa Simplex Kobner 		0.750 GeneticVariation UNIPROT Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. 1720261

1991