Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs62651994
rs62651994
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C1843463
Disease:
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		0.700 GeneticVariation UNIPROT A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma. 9856845 1998
dbSNP: rs62651994
rs62651994
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C1843463
Disease:
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		0.700 GeneticVariation UNIPROT A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma. 9036939 1997
dbSNP: rs61434181
rs61434181
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.800 GeneticVariation UNIPROT Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing. 7507150 1994
dbSNP: rs61434181
rs61434181
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		C 0.800 CausalMutation CLINVAR
dbSNP: rs61434181
rs61434181
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.800 GeneticVariation UNIPROT The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes. 1381287 1992
dbSNP: rs61434181
rs61434181
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.800 GeneticVariation UNIPROT Genetic and clinical mosaicism in a type of epidermal nevus. 7526210 1994
dbSNP: rs61434181
rs61434181
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.800 GeneticVariation UNIPROT Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis. 21271994 2011
dbSNP: rs61434181
rs61434181
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.800 GeneticVariation UNIPROT Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE). 7507152 1994
dbSNP: rs61434181
rs61434181
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.800 GeneticVariation UNIPROT Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis. 7508181 1994
dbSNP: rs61434181
rs61434181
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.800 GeneticVariation UNIPROT Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. 1380725 1992
dbSNP: rs61434181
rs61434181
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.800 GeneticVariation UNIPROT Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity. 7512983 1994
dbSNP: rs61434181
rs61434181
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.800 GeneticVariation UNIPROT A novel substitution in keratin 10 in epidermolytic hyperkeratosis. 10201536 1999
dbSNP: rs60118264
rs60118264
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		G 0.800 CausalMutation CLINVAR
dbSNP: rs60118264
rs60118264
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		0.800 GeneticVariation UNIPROT
dbSNP: rs60035576
rs60035576
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C0079153
Disease:
Hyperkeratosis, Epidermolytic 		A 0.700 CausalMutation CLINVAR
dbSNP: rs59075499
rs59075499
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C1843463
Disease:
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		TC 0.800 CausalMutation CLINVAR
dbSNP: rs59075499
rs59075499
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C1843463
Disease:
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		0.800 GeneticVariation UNIPROT A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma. 9036939 1997
dbSNP: rs59075499
rs59075499
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C1843463
Disease:
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		0.800 GeneticVariation UNIPROT A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma. 9856845 1998
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
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: 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 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 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 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 UNIPROT Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity. 7512983 1994