Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
0.980 GeneticVariation disease UNIPROT Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential. 10730767 2000
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
0.980 GeneticVariation disease UNIPROT Epidermolysis bullosa simplex in Israel: clinical and genetic features. 12707098 2003
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
0.980 GeneticVariation disease UNIPROT Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. 1717157 1991
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
0.980 Biomarker disease GENOMICS_ENGLAND Epidermolysis bullosa simplex: recurrent and de novo mutations in the KRT5 and KRT14 genes, phenotype/genotype correlations, and implications for genetic counseling and prenatal diagnosis. 16098032 2005
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
0.980 Biomarker disease GENOMICS_ENGLAND Keratin 14 gene mutations in patients with epidermolysis bullosa simplex. 7561171 1995
Entrez Id: 3861
Gene Symbol: KRT14
KRT14
0.980 Biomarker disease GENOMICS_ENGLAND Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14). 9804355 1998