Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58330629
rs58330629
KRT14
0.010 GeneticVariation BEFREE Here, we compared the K14p.Arg125Pro with the K5p.Glu477Asp mutation, both giving rise to severe generalized EBS, by stable expression in keratin-free keratinocytes. 25961909

2015
dbSNP: rs60399023
rs60399023
KRT14
0.010 GeneticVariation BEFREE We report a 28-year-old man with EB simplex with a missense keratin 14 mutation p.Arg125Cys associated with clumping of keratin filaments and acantholysis in mainly the spinous cells and basal cells. 21967011

2011
dbSNP: rs61222761
rs61222761
KRT5
0.010 GeneticVariation BEFREE We identified a novel mutation (Asp158Val) in the H1 domain of the K5 gene in this Japanese patient with EBS-KB. 17040498

2006
dbSNP: rs80338756
rs80338756
PLEC
0.010 GeneticVariation BEFREE Second, a heterozygous missense mutation (R2110W) in PLEC1 has been documented in patients with EB simplex of the Ogna type, a rare autosomal dominant disorder. 15810881

2005
dbSNP: rs1057515580
rs1057515580
KLHL24
C 0.700 CausalMutation CLINVAR Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility. 27889062

2016
dbSNP: rs886037956
rs886037956
KLHL24
G 0.700 CausalMutation CLINVAR Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility. 27798626

2016
dbSNP: rs886037957
rs886037957
KLHL24
T 0.700 CausalMutation CLINVAR Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility. 27798626

2016
dbSNP: rs886037957
rs886037957
KLHL24
A 0.700 CausalMutation CLINVAR Stabilizing mutations of KLHL24 ubiquitin ligase cause loss of keratin 14 and human skin fragility. 27798626

2016
dbSNP: rs57751134
rs57751134
KRT5
0.700 GeneticVariation UNIPROT Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. 21623745

2011
dbSNP: rs59840738
rs59840738
KRT5
0.700 GeneticVariation UNIPROT Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex. 21623745

2011
dbSNP: rs57751134
rs57751134
KRT5
0.700 GeneticVariation UNIPROT Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. 16882168

2006
dbSNP: rs59110575
rs59110575
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: rs59840738
rs59840738
KRT5
0.700 GeneticVariation UNIPROT Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases. 16882168

2006
dbSNP: rs61326242
rs61326242
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: rs57751134
rs57751134
KRT5
0.700 GeneticVariation UNIPROT A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes. 11407988

2001
dbSNP: rs59110575
rs59110575
KRT14
0.700 GeneticVariation UNIPROT Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes. 11710919

2001
dbSNP: rs59840738
rs59840738
KRT5
0.700 GeneticVariation UNIPROT A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes. 11407988

2001
dbSNP: rs61326242
rs61326242
KRT14
0.700 GeneticVariation UNIPROT Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes. 11710919

2001
dbSNP: rs59110575
rs59110575
KRT14
0.700 GeneticVariation UNIPROT DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex. 10820403

2000
dbSNP: rs59110575
rs59110575
KRT14
0.700 GeneticVariation UNIPROT Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis. 10733662

2000
dbSNP: rs61326242
rs61326242
KRT14
0.700 GeneticVariation UNIPROT DNA based prenatal testing for the skin blistering disorder epidermolysis bullosa simplex. 10820403

2000
dbSNP: rs61326242
rs61326242
KRT14
0.700 GeneticVariation UNIPROT Exempting homologous pseudogene sequences from polymerase chain reaction amplification allows genomic keratin 14 hotspot mutation analysis. 10733662

2000
dbSNP: rs57751134
rs57751134
KRT5
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: rs59110575
rs59110575
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: rs59840738
rs59840738
KRT5
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