Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Epidermolytic Hyperkeratoses KRT1 disease C0079153 GermlineCausalMutation 1 orphanet , disgenet
Epidermolytic Hyperkeratoses KRT1 disease C0079153 AlteredExpression 1 orphanet , disgenet
Epidermolytic Hyperkeratoses KRT1 disease C0079153 GeneticVariation 1 orphanet , disgenet
Epidermolytic Hyperkeratoses KRT1 disease C0079153 Biomarker 1 orphanet , disgenet
Epidermolytic Hyperkeratoses KRT1 disease C0079153 CausalMutation 1 orphanet , disgenet
Epidermolytic Hyperkeratoses KRT10 disease C0079153 CausalMutation 0.8 orphanet , disgenet
Epidermolytic Hyperkeratoses KRT10 disease C0079153 GermlineCausalMutation 0.8 orphanet , disgenet
Epidermolytic Hyperkeratoses KRT10 disease C0079153 Biomarker 0.8 orphanet , disgenet
Epidermolytic Hyperkeratoses KRT10 disease C0079153 GeneticVariation 0.8 orphanet , disgenet
Epidermolytic Hyperkeratoses GJB3 disease C0079153 Biomarker 0.3 disgenet
Epidermolytic Hyperkeratoses GJB4 disease C0079153 Biomarker 0.3 disgenet
Epidermolytic Hyperkeratoses ERCC2 disease C0079153 Biomarker 0.3 disgenet
Epidermolytic Hyperkeratoses JUP disease C0079153 Biomarker 0.2 disgenet
Epidermolytic Hyperkeratoses KRT2 disease C0079153 GeneticVariation 0.15 orphanet , disgenet
Epidermolytic Hyperkeratoses KRT2 disease C0079153 Biomarker 0.15 orphanet , disgenet
Epidermolytic Hyperkeratoses KRT2 disease C0079153 AlteredExpression 0.15 orphanet , disgenet
Epidermolytic Hyperkeratoses TMEM99 disease C0079153 CausalMutation 0.1 disgenet
Epidermolytic Hyperkeratoses COL7A1 disease C0079153 GeneticVariation 0.1 disgenet
Epidermolytic Hyperkeratoses DSP disease C0079153 Biomarker 0.1 disgenet
Epidermolytic Hyperkeratoses KRT9 disease C0079153 GeneticVariation 0.03 disgenet
Epidermolytic Hyperkeratoses ALOXE3 disease C0079153 GeneticVariation 0.02 disgenet
Epidermolytic Hyperkeratoses FLG disease C0079153 GeneticVariation 0.02 orphanet , disgenet
Epidermolytic Hyperkeratoses FLG disease C0079153 Biomarker 0.02 orphanet , disgenet
Epidermolytic Hyperkeratoses GAL disease C0079153 Biomarker 0.01 disgenet
Epidermolytic Hyperkeratoses KRTAP5-1 disease C0079153 GeneticVariation 0.01 disgenet
Epidermolytic Hyperkeratoses TGM1 disease C0079153 GeneticVariation 0.01 disgenet
Epidermolytic Hyperkeratoses KRT126P disease C0079153 GeneticVariation 0.01 disgenet
Epidermolytic Hyperkeratoses ALOX12B disease C0079153 GeneticVariation 0.01 disgenet
Epidermolytic Hyperkeratoses GJB2 disease C0079153 GeneticVariation 0.01 disgenet
Epidermolytic Hyperkeratoses KLKB1 disease C0079153 GeneticVariation 0.01 disgenet
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