Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58378809
rs58378809
KRT14
0.700 GeneticVariation UNIPROT Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. 16882168

2006
dbSNP: rs58378809
rs58378809
KRT14
0.700 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: rs58378809
rs58378809
KRT14
0.700 GeneticVariation UNIPROT Novel keratin 14 gene mutations in patients from Hungary with epidermolysis bullosa simplex. 14987259

2004
dbSNP: rs58378809
rs58378809
KRT14
0.700 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: rs58378809
rs58378809
KRT14
0.700 GeneticVariation UNIPROT Epidermolysis bullosa simplex in Israel: clinical and genetic features. 12707098

2003
dbSNP: rs58378809
rs58378809
KRT14
0.700 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: rs58378809
rs58378809
KRT14
0.700 GeneticVariation UNIPROT Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis. 10733662

2000
dbSNP: rs58378809
rs58378809
KRT14
0.700 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: rs58378809
rs58378809
KRT14
0.700 GeneticVariation UNIPROT Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex. 9804357

1998
dbSNP: rs58378809
rs58378809
KRT14
0.700 GeneticVariation UNIPROT Partial dominance of a keratin 14 mutation in epidermolysis bullosa simplex--increased severity of disease in a homozygote. 9284105

1997
dbSNP: rs58378809
rs58378809
KRT14
0.700 GeneticVariation UNIPROT Keratin 14 gene mutations in patients with epidermolysis bullosa simplex. 7561171

1995
dbSNP: rs58378809
rs58378809
KRT14
0.700 GeneticVariation UNIPROT A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375. 7506606

1993
dbSNP: rs58378809
rs58378809
KRT14
0.700 GeneticVariation UNIPROT Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function. 7506097

1993