| Variant | Gene | Disease | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
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G | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | ||||||||||
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T | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.820 | GeneticVariation | UNIPROT | ||||||||||
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0.820 | GeneticVariation | BEFREE | The concept was first demonstrated by detecting the R156H-mutant gene of keratin 10 in Epidermolytic hyperkeratosis (EHK). | 22133519 | 2012 | |||||||
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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 | |||||||
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T | 0.820 | CausalMutation | CLINVAR | |||||||||
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0.010 | GeneticVariation | BEFREE | To analyse molecular pathomechanisms of hyperproliferation and hyperkeratosis, we investigated the defects in mechanosensation and mechanotransduction in keratinocytes carrying the K10(R156H) mutation. | 20804491 | 2011 | |||||||
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0.800 | GeneticVariation | UNIPROT | A novel substitution in keratin 10 in epidermolytic hyperkeratosis. | 10201536 | 1999 | |||||||
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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 | |||||||
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0.800 | GeneticVariation | UNIPROT | The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes. | 1381287 | 1992 | |||||||
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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 | |||||||
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0.800 | GeneticVariation | UNIPROT | Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis. | 7508181 | 1994 | |||||||
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0.800 | 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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0.800 | GeneticVariation | UNIPROT | Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. | 1380725 | 1992 | |||||||
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0.800 | GeneticVariation | UNIPROT | Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing. | 7507150 | 1994 | |||||||
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C | 0.800 | CausalMutation | CLINVAR | |||||||||
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0.800 | GeneticVariation | UNIPROT | Genetic and clinical mosaicism in a type of epidermal nevus. | 7526210 | 1994 | |||||||
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0.700 | GeneticVariation | UNIPROT | ||||||||||
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C | 0.700 | CausalMutation | CLINVAR | |||||||||
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T | 0.700 | CausalMutation | CLINVAR | |||||||||
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CG | 0.700 | CausalMutation | CLINVAR | |||||||||
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0.830 | GeneticVariation | UNIPROT | A novel substitution in keratin 10 in epidermolytic hyperkeratosis. | 10201536 | 1999 | |||||||
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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 | |||||||
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A | 0.830 | CausalMutation | CLINVAR |