Source: UNIPROT

Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 3848
Gene Symbol: KRT1
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		1.000 GeneticVariation UNIPROT Mutation analysis was performed in 28 patients with EI by direct sequencing of KRT1 and KRT10 genes. 21271994

2011
Entrez Id: 3848
Gene Symbol: KRT1
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		1.000 GeneticVariation UNIPROT Two novel mutations in the keratin 1 gene in epidermolytic hyperkeratosis. 12406348

2002
Entrez Id: 3848
Gene Symbol: KRT1
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		1.000 GeneticVariation UNIPROT We report a new amino acid substitution mutation in codon 155 of KRT1 (valine to aspartic acid) in the conserved H1 domain of the protein in the patient with BCIE. 11531804

2001
Entrez Id: 3848
Gene Symbol: KRT1
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		1.000 GeneticVariation UNIPROT We have investigated a large kindred affected by EHK and identified a new point mutation in the 2B region of keratin 1 (I107T), resulting from a T to C transition in codon 478. 10688370

2000
Entrez Id: 3848
Gene Symbol: KRT1
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		1.000 GeneticVariation UNIPROT Epidermolytic hyperkeratosis in a Hispanic family resulting from a mutation in the keratin 1 gene. 10844506

2000
Entrez Id: 3848
Gene Symbol: KRT1
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		1.000 GeneticVariation UNIPROT We report a severe case of EHK with a single base pair mutation that causes a threonine for asparagine substitution in residue 8 (N8T) of the 1A region of the keratin 1 protein. 10232403

1999
Entrez Id: 3848
Gene Symbol: KRT1
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		1.000 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
Entrez Id: 3848
Gene Symbol: KRT1
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		1.000 GeneticVariation UNIPROT Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity. 7512983

1994
Entrez Id: 3848
Gene Symbol: KRT1
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		1.000 GeneticVariation UNIPROT In this paper, we report the identification of three new mutations of the keratin 1 chain of epidermolytic hyperkeratosis probands in highly conserved residues in the H1 or beginning of the 1A rod domain segments. 7507151

1994
Entrez Id: 3848
Gene Symbol: KRT1
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		1.000 GeneticVariation UNIPROT Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE). 7507152

1994
Entrez Id: 3848
Gene Symbol: KRT1
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		1.000 GeneticVariation UNIPROT Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. 1380725

1992
Entrez Id: 3848
Gene Symbol: KRT1
KRT1
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		1.000 GeneticVariation UNIPROT A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. 1381288

1992
Entrez Id: 3858
Gene Symbol: KRT10
KRT10
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		0.800 GeneticVariation UNIPROT Mutation analysis was performed in 28 patients with EI by direct sequencing of KRT1 and KRT10 genes. 21271994

2011
Entrez Id: 3858
Gene Symbol: KRT10
KRT10
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		0.800 GeneticVariation UNIPROT It has been shown that the tonofilament aggregates in these areas are composed of keratin 1 (K1) and keratin 10 (K10), and several K1 and K10 point mutations have been identified as the molecular basis of epidermolytic hyperkeratosis. 10201536

1999
Entrez Id: 3858
Gene Symbol: KRT10
KRT10
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
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
Entrez Id: 3858
Gene Symbol: KRT10
KRT10
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		0.800 GeneticVariation UNIPROT We have examined a series of probands with EH in order to develop a catalog of mutations in keratin 10. 7508181

1994
Entrez Id: 3858
Gene Symbol: KRT10
KRT10
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		0.800 GeneticVariation UNIPROT Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing. 7507150

1994
Entrez Id: 3858
Gene Symbol: KRT10
KRT10
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
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
Entrez Id: 3858
Gene Symbol: KRT10
KRT10
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		0.800 GeneticVariation UNIPROT We studied the K1 and K10 genes in blood and in the keratinocytes and fibroblasts of lesional and nonlesional skin from three patients with epidermal nevi and four of their offspring with epidermolytic hyperkeratosis. 7526210

1994
Entrez Id: 3858
Gene Symbol: KRT10
KRT10
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		0.800 GeneticVariation UNIPROT Two of six distinct incidences of EH had a keratin 10 (K10) point mutation in a highly conserved arginine. 1381287

1992
Entrez Id: 3858
Gene Symbol: KRT10
KRT10
CUI: C0079153
Disease: Hyperkeratosis, Epidermolytic
Hyperkeratosis, Epidermolytic 		0.800 GeneticVariation UNIPROT Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. 1380725

1992