Source: UNIPROT

Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs58062863
rs58062863
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		0.700 GeneticVariation UNIPROT Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis. 21271994

2011
dbSNP: rs58062863
rs58062863
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		0.700 GeneticVariation UNIPROT Two novel mutations in the keratin 1 gene in epidermolytic hyperkeratosis. 12406348

2002
dbSNP: rs58062863
rs58062863
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		0.700 GeneticVariation UNIPROT New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens. 11531804

2001
dbSNP: rs58062863
rs58062863
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		0.700 GeneticVariation UNIPROT Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene. 10844506

2000
dbSNP: rs58062863
rs58062863
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		0.700 GeneticVariation UNIPROT Identification of a novel mutation in keratin 1 in a family with epidermolytic hyperkeratosis. 10688370

2000
dbSNP: rs58062863
rs58062863
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		0.700 GeneticVariation UNIPROT An asparagine to threonine substitution in the 1A domain of keratin 1: a novel mutation that causes epidermolytic hyperkeratosis. 10232403

1999
dbSNP: rs58062863
rs58062863
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		0.700 GeneticVariation UNIPROT An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1. 9856846

1998
dbSNP: rs58062863
rs58062863
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		0.700 GeneticVariation UNIPROT Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity. 7512983

1994
dbSNP: rs58062863
rs58062863
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		0.700 GeneticVariation UNIPROT Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis. 7507151

1994
dbSNP: rs58062863
rs58062863
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		0.700 GeneticVariation UNIPROT Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE). 7507152

1994
dbSNP: rs58062863
rs58062863
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		0.700 GeneticVariation UNIPROT Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. 1380725

1992
dbSNP: rs58062863
rs58062863
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		0.700 GeneticVariation UNIPROT A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. 1381288

1992