Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58852768
rs58852768
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.830 GeneticVariation BEFREE Both occur within the mutational "hot spot" of the keratin 10 (K10) 2B rod domain, adjacent to severe EI-associated mutations. p.Q434del and p.R441P formed collapsed K10 fibers rather than aggregates characteristic of severe EI KRT10 mutations such as p.R156C. 26176760 2015
dbSNP: rs58852768
rs58852768
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.830 GeneticVariation UNIPROT Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis. 21271994 2011
dbSNP: rs58852768
rs58852768
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.830 GeneticVariation BEFREE Clinical manifestations and molecular analysis indicated that R156C mutation in keratin 10 gene (KRT10) causes a mild form of epidermolytic hyperkeratosis (EHK) in the presented case. 17683385 2007
dbSNP: rs58852768
rs58852768
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.830 GeneticVariation BEFREE A keratin 10 gene mutation (Arg156Cys) in a Japanese patient with bullous congenital ichthyosiform erythroderma. 11990254 2002
dbSNP: rs58852768
rs58852768
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.830 GeneticVariation UNIPROT A novel substitution in keratin 10 in epidermolytic hyperkeratosis. 10201536 1999
dbSNP: rs58852768
rs58852768
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.830 GeneticVariation UNIPROT Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity. 7512983 1994
dbSNP: rs58852768
rs58852768
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.830 GeneticVariation UNIPROT Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE). 7507152 1994
dbSNP: rs58852768
rs58852768
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.830 GeneticVariation UNIPROT Genetic and clinical mosaicism in a type of epidermal nevus. 7526210 1994
dbSNP: rs58852768
rs58852768
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.830 GeneticVariation UNIPROT Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing. 7507150 1994
dbSNP: rs58852768
rs58852768
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.830 GeneticVariation UNIPROT Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis. 7508181 1994
dbSNP: rs58852768
rs58852768
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.830 GeneticVariation UNIPROT Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. 1380725 1992
dbSNP: rs58852768
rs58852768
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.830 GeneticVariation UNIPROT The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes. 1381287 1992
dbSNP: rs58852768
rs58852768
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		A 0.830 CausalMutation CLINVAR
dbSNP: rs58075662
rs58075662
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.820 GeneticVariation BEFREE The concept was first demonstrated by detecting the R156H-mutant gene of keratin 10 in Epidermolytic hyperkeratosis (EHK). 22133519 2012
dbSNP: rs58901407
rs58901407
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.820 GeneticVariation UNIPROT Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis. 21271994 2011
dbSNP: rs58901407
rs58901407
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.820 GeneticVariation BEFREE The proband was a Japanese woman with bullous congenital ichthyosiform erythroderma harboring a keratin 10 gene mutation M150T. 15583602 2004
dbSNP: rs58901407
rs58901407
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.820 GeneticVariation BEFREE These findings suggest that a normal CCE is formed during the process of human epidermal keratinization, even if the suprabasal keratin filament network is disrupted as with this particular K10 mutation, M150T in BCIE. 14705805 2003
dbSNP: rs58075662
rs58075662
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.820 GeneticVariation BEFREE These results confirmed that codon 156 is a frequently mutated site, and that R156H in KRT10 is likely also to be a mutation hotspot in Japanese patients with BCIE. 11204523 2000
dbSNP: rs58901407
rs58901407
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.820 GeneticVariation UNIPROT A novel substitution in keratin 10 in epidermolytic hyperkeratosis. 10201536 1999
dbSNP: rs58901407
rs58901407
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.820 GeneticVariation UNIPROT Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing. 7507150 1994
dbSNP: rs58901407
rs58901407
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.820 GeneticVariation UNIPROT Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis. 7508181 1994
dbSNP: rs58901407
rs58901407
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.820 GeneticVariation UNIPROT Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity. 7512983 1994
dbSNP: rs58901407
rs58901407
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.820 GeneticVariation UNIPROT Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE). 7507152 1994
dbSNP: rs58901407
rs58901407
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.820 GeneticVariation UNIPROT Genetic and clinical mosaicism in a type of epidermal nevus. 7526210 1994
dbSNP: rs58901407
rs58901407
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.820 GeneticVariation UNIPROT Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. 1380725 1992