Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Congenital Ichthyosiform Erythrodermas PNPLA1 disease C0079583 Biomarker 0.48 disgenet
Congenital Ichthyosiform Erythrodermas PNPLA1 disease C0079583 GeneticVariation 0.48 disgenet
Congenital Ichthyosiform Erythrodermas PNPLA1 disease C0079583 CausalMutation 0.48 disgenet
Congenital Ichthyosiform Erythrodermas TGM1 disease C0079583 Biomarker 0.2 disgenet
Congenital Ichthyosiform Erythrodermas TGM1 disease C0079583 GeneticVariation 0.2 disgenet
Congenital Ichthyosiform Erythrodermas ABCA12 disease C0079583 Biomarker 0.2 disgenet
Congenital Ichthyosiform Erythrodermas ABCA12 disease C0079583 GeneticVariation 0.2 disgenet
Congenital Ichthyosiform Erythrodermas ALOXE3 disease C0079583 GeneticVariation 0.17 disgenet
Congenital Ichthyosiform Erythrodermas ALOXE3 disease C0079583 Biomarker 0.17 disgenet
Congenital Ichthyosiform Erythrodermas ALOX12B disease C0079583 CausalMutation 0.16 disgenet
Congenital Ichthyosiform Erythrodermas ALOX12B disease C0079583 Biomarker 0.16 disgenet
Congenital Ichthyosiform Erythrodermas ALOX12B disease C0079583 GeneticVariation 0.16 disgenet
Congenital Ichthyosiform Erythrodermas CERS3 disease C0079583 Biomarker 0.13 disgenet
Congenital Ichthyosiform Erythrodermas CERS3 disease C0079583 GeneticVariation 0.13 disgenet
Congenital Ichthyosiform Erythrodermas STS disease C0079583 GeneticVariation 0.12 disgenet
Congenital Ichthyosiform Erythrodermas STS disease C0079583 Biomarker 0.12 disgenet
Congenital Ichthyosiform Erythrodermas EBP disease C0079583 Biomarker 0.11 disgenet
Congenital Ichthyosiform Erythrodermas EBP disease C0079583 GeneticVariation 0.11 disgenet
Congenital Ichthyosiform Erythrodermas ELOVL4 disease C0079583 GeneticVariation 0.1 orphanet , disgenet
Congenital Ichthyosiform Erythrodermas ST14 disease C0079583 Biomarker 0.1 disgenet
Congenital Ichthyosiform Erythrodermas LIPN disease C0079583 Biomarker 0.1 disgenet
Congenital Ichthyosiform Erythrodermas NSDHL disease C0079583 Biomarker 0.1 disgenet
Congenital Ichthyosiform Erythrodermas IL2RB disease C0079583 CausalMutation 0.1 disgenet
Congenital Ichthyosiform Erythrodermas NIPAL4 disease C0079583 GeneticVariation 0.08 disgenet
Congenital Ichthyosiform Erythrodermas NIPAL4 disease C0079583 AlteredExpression 0.08 disgenet
Congenital Ichthyosiform Erythrodermas CYP4F22 disease C0079583 GeneticVariation 0.04 disgenet
Congenital Ichthyosiform Erythrodermas SPINK5 disease C0079583 AlteredExpression 0.03 disgenet
Congenital Ichthyosiform Erythrodermas SPINK5 disease C0079583 GeneticVariation 0.03 disgenet
Congenital Ichthyosiform Erythrodermas FLG disease C0079583 Biomarker 0.02 disgenet
Congenital Ichthyosiform Erythrodermas FLG disease C0079583 GeneticVariation 0.02 disgenet
Congenital Ichthyosiform Erythrodermas SLC27A4 disease C0079583 GeneticVariation 0.02 disgenet
Congenital Ichthyosiform Erythrodermas ALDH3A2 disease C0079583 AlteredExpression 0.02 disgenet
Congenital Ichthyosiform Erythrodermas SLC27A4 disease C0079583 Biomarker 0.02 disgenet
Congenital Ichthyosiform Erythrodermas LOX disease C0079583 GeneticVariation 0.02 disgenet
Congenital Ichthyosiform Erythrodermas ALDH3A2 disease C0079583 Biomarker 0.02 disgenet
Congenital Ichthyosiform Erythrodermas CST6 disease C0079583 GeneticVariation 0.01 disgenet
Congenital Ichthyosiform Erythrodermas IL22 disease C0079583 Biomarker 0.01 disgenet
Congenital Ichthyosiform Erythrodermas GATA3 disease C0079583 GeneticVariation 0.01 disgenet
Congenital Ichthyosiform Erythrodermas SULT2B1 disease C0079583 GeneticVariation 0.01 disgenet
Congenital Ichthyosiform Erythrodermas CYB5A disease C0079583 GeneticVariation 0.01 disgenet
Congenital Ichthyosiform Erythrodermas DMKN disease C0079583 Biomarker 0.01 disgenet
Congenital Ichthyosiform Erythrodermas CAPN12 disease C0079583 Biomarker 0.01 disgenet
Congenital Ichthyosiform Erythrodermas SDR9C7 disease C0079583 GeneticVariation 0.01 disgenet
Congenital Ichthyosiform Erythrodermas GBA disease C0079583 Biomarker 0.01 disgenet
Congenital Ichthyosiform Erythrodermas LORICRIN disease C0079583 GeneticVariation 0.01 disgenet
Congenital Ichthyosiform Erythrodermas IL17A disease C0079583 Biomarker 0.01 disgenet
Congenital Ichthyosiform Erythrodermas KRT1 NA C0079583 NA NA orphanet
Congenital Ichthyosiform Erythrodermas KRT10 NA C0079583 NA NA orphanet
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