Disease: Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs59075499
rs59075499
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C1843463
Disease:
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		0.800 GeneticVariation UNIPROT A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma. 9856845 1998
dbSNP: rs59075499
rs59075499
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C1843463
Disease:
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		0.800 GeneticVariation UNIPROT A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma. 9036939 1997
dbSNP: rs59075499
rs59075499
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C1843463
Disease:
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		TC 0.800 CausalMutation CLINVAR
dbSNP: rs62651994
rs62651994
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C1843463
Disease:
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		0.700 GeneticVariation UNIPROT A novel helix termination mutation in keratin 10 in annular epidermolytic ichthyosis, a variant of bullous congenital ichthyosiform erythroderma. 9856845 1998
dbSNP: rs62651994
rs62651994
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C1843463
Disease:
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		0.700 GeneticVariation UNIPROT A novel dinucleotide mutation in keratin 10 in the annular epidermolytic ichthyosis variant of bullous congenital ichthyosiform erythroderma. 9036939 1997
dbSNP: rs58852768
rs58852768
Entrez Id: 3858;147184
Gene Symbol: KRT10;TMEM99
KRT10;TMEM99
CUI: C1843463
Disease:
Ichthyosis, Cyclic, with Epidermolytic Hyperkeratosis 		A 0.700 CausalMutation CLINVAR