KRT10, keratin 10, 3858
N. diseases: 93; N. variants: 21
Source: ALL
Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
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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 | |||||||
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0.820 | GeneticVariation | BEFREE | The proband was a Japanese woman with bullous congenital ichthyosiform erythroderma harboring a keratin 10 gene mutation M150T. | 15583602 | 2004 | |||||||
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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 | |||||||
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0.820 | GeneticVariation | UNIPROT | A novel substitution in keratin 10 in epidermolytic hyperkeratosis. | 10201536 | 1999 | |||||||
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0.820 | GeneticVariation | UNIPROT | Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing. | 7507150 | 1994 | |||||||
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0.820 | GeneticVariation | UNIPROT | Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis. | 7508181 | 1994 | |||||||
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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 | |||||||
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0.820 | GeneticVariation | UNIPROT | Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE). | 7507152 | 1994 | |||||||
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0.820 | GeneticVariation | UNIPROT | Genetic and clinical mosaicism in a type of epidermal nevus. | 7526210 | 1994 | |||||||
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0.820 | GeneticVariation | UNIPROT | Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. | 1380725 | 1992 | |||||||
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0.820 | GeneticVariation | UNIPROT | The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes. | 1381287 | 1992 | |||||||
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C | 0.820 | CausalMutation | CLINVAR | |||||||||
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G | 0.820 | CausalMutation | CLINVAR |