KRT10, keratin 10, 3858

N. diseases: 93; N. variants: 21
Disease: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1843463
Disease: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		0.730 GeneticVariation disease BEFREE Mutations within the rod domain, not in the beginning or the end of the rod domain, of keratin 10 were reported in annular epidermolytic ichthyosis (AEI), the distinct subtype of bullous congenital ichthyosiform erythroderma. 10511478 1999
CUI: C1843463
Disease: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		0.730 GeneticVariation disease UNIPROT A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma. 9856845 1998
CUI: C1843463
Disease: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		0.730 GermlineCausalMutation disease ORPHANET A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma. 9856845 1998
CUI: C1843463
Disease: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		0.730 GeneticVariation disease BEFREE A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma. 9856845 1998
CUI: C1843463
Disease: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		0.730 GermlineCausalMutation disease ORPHANET A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma. 9036939 1997
CUI: C1843463
Disease: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		0.730 GeneticVariation disease UNIPROT A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma. 9036939 1997
CUI: C1843463
Disease: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		0.730 GeneticVariation disease BEFREE A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma. 9036939 1997
CUI: C1843463
Disease: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		0.730 Biomarker disease GENOMICS_ENGLAND
CUI: C1843463
Disease: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		0.730 CausalMutation disease CLINVAR
CUI: C1843463
Disease: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		0.730 Biomarker disease CTD_human