Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Ichthyosis, Lamellar TGM1 disease C0079154 CausalMutation 1 orphanet , disgenet
Ichthyosis, Lamellar TGM1 disease C0079154 Biomarker 1 orphanet , disgenet
Ichthyosis, Lamellar TGM1 disease C0079154 AlteredExpression 1 orphanet , disgenet
Ichthyosis, Lamellar TGM1 disease C0079154 GermlineCausalMutation 1 orphanet , disgenet
Ichthyosis, Lamellar TGM1 disease C0079154 GeneticVariation 1 orphanet , disgenet
Ichthyosis, Lamellar PNPLA1 disease C0079154 GeneticVariation 0.78 orphanet , disgenet
Ichthyosis, Lamellar PNPLA1 disease C0079154 GermlineCausalMutation 0.78 orphanet , disgenet
Ichthyosis, Lamellar PNPLA1 disease C0079154 Biomarker 0.78 orphanet , disgenet
Ichthyosis, Lamellar ALOX12B disease C0079154 GeneticVariation 0.75 orphanet , disgenet
Ichthyosis, Lamellar ALOX12B disease C0079154 Biomarker 0.75 orphanet , disgenet
Ichthyosis, Lamellar ALOX12B disease C0079154 GermlineCausalMutation 0.75 orphanet , disgenet
Ichthyosis, Lamellar ALOX12B disease C0079154 CausalMutation 0.75 orphanet , disgenet
Ichthyosis, Lamellar ABCA12 disease C0079154 Biomarker 0.7 orphanet , disgenet
Ichthyosis, Lamellar ABCA12 disease C0079154 GermlineCausalMutation 0.7 orphanet , disgenet
Ichthyosis, Lamellar ABCA12 disease C0079154 GeneticVariation 0.7 orphanet , disgenet
Ichthyosis, Lamellar NIPAL4 disease C0079154 GermlineCausalMutation 0.68 orphanet , disgenet
Ichthyosis, Lamellar NIPAL4 disease C0079154 GeneticVariation 0.68 orphanet , disgenet
Ichthyosis, Lamellar NIPAL4 disease C0079154 AlteredExpression 0.68 orphanet , disgenet
Ichthyosis, Lamellar NIPAL4 disease C0079154 Biomarker 0.68 orphanet , disgenet
Ichthyosis, Lamellar ALOXE3 disease C0079154 Biomarker 0.65 orphanet , disgenet
Ichthyosis, Lamellar ALOXE3 disease C0079154 GeneticVariation 0.65 orphanet , disgenet
Ichthyosis, Lamellar CYP4F22 disease C0079154 GeneticVariation 0.65 orphanet , disgenet
Ichthyosis, Lamellar ALOXE3 disease C0079154 GermlineCausalMutation 0.65 orphanet , disgenet
Ichthyosis, Lamellar CYP4F22 disease C0079154 Biomarker 0.65 orphanet , disgenet
Ichthyosis, Lamellar CYP4F22 disease C0079154 GermlineCausalMutation 0.65 orphanet , disgenet
Ichthyosis, Lamellar LIPN disease C0079154 Biomarker 0.5 orphanet , disgenet
Ichthyosis, Lamellar LIPN disease C0079154 GermlineCausalMutation 0.5 orphanet , disgenet
Ichthyosis, Lamellar CERS3 disease C0079154 GermlineCausalMutation 0.33 orphanet , disgenet
Ichthyosis, Lamellar CERS3 disease C0079154 Biomarker 0.33 orphanet , disgenet
Ichthyosis, Lamellar CERS3 disease C0079154 GeneticVariation 0.33 orphanet , disgenet
Ichthyosis, Lamellar SDR9C7 disease C0079154 GermlineCausalMutation 0.31 orphanet , disgenet
Ichthyosis, Lamellar SDR9C7 disease C0079154 GeneticVariation 0.31 orphanet , disgenet
Ichthyosis, Lamellar SULT2B1 disease C0079154 GermlineCausalMutation 0.31 orphanet , disgenet
Ichthyosis, Lamellar SULT2B1 disease C0079154 GeneticVariation 0.31 orphanet , disgenet
Ichthyosis, Lamellar LORICRIN disease C0079154 GeneticVariation 0.11 disgenet
Ichthyosis, Lamellar LORICRIN disease C0079154 Biomarker 0.11 disgenet
Ichthyosis, Lamellar GBA disease C0079154 Biomarker 0.11 disgenet
Ichthyosis, Lamellar ABHD5 disease C0079154 GeneticVariation 0.11 disgenet
Ichthyosis, Lamellar ABHD5 disease C0079154 Biomarker 0.11 disgenet
Ichthyosis, Lamellar SPINK5 disease C0079154 Biomarker 0.11 disgenet
Ichthyosis, Lamellar ERCC2 disease C0079154 Biomarker 0.1 disgenet
Ichthyosis, Lamellar POMP disease C0079154 Biomarker 0.1 disgenet
Ichthyosis, Lamellar GTF2H5 disease C0079154 Biomarker 0.1 disgenet
Ichthyosis, Lamellar TARS1 disease C0079154 Biomarker 0.1 disgenet
Ichthyosis, Lamellar ERCC3 disease C0079154 Biomarker 0.1 disgenet
Ichthyosis, Lamellar COG7 disease C0079154 GeneticVariation 0.1 disgenet
Ichthyosis, Lamellar COG7 disease C0079154 CausalMutation 0.1 disgenet
Ichthyosis, Lamellar FLG disease C0079154 Biomarker 0.02 disgenet
Ichthyosis, Lamellar ALDH3A2 disease C0079154 AlteredExpression 0.02 disgenet
Ichthyosis, Lamellar SLC27A4 disease C0079154 GeneticVariation 0.02 disgenet
Ichthyosis, Lamellar STS disease C0079154 Biomarker 0.02 disgenet
Ichthyosis, Lamellar STS disease C0079154 GeneticVariation 0.02 disgenet
Ichthyosis, Lamellar SLC27A4 disease C0079154 Biomarker 0.02 disgenet
Ichthyosis, Lamellar ALDH3A2 disease C0079154 Biomarker 0.02 disgenet
Ichthyosis, Lamellar CST6 disease C0079154 GeneticVariation 0.01 disgenet
Ichthyosis, Lamellar CYB5A disease C0079154 GeneticVariation 0.01 disgenet
Ichthyosis, Lamellar GATA3 disease C0079154 GeneticVariation 0.01 disgenet
Ichthyosis, Lamellar BCL2 disease C0079154 AlteredExpression 0.01 disgenet
Ichthyosis, Lamellar CAPN12 disease C0079154 Biomarker 0.01 disgenet
Ichthyosis, Lamellar ELF3 disease C0079154 GeneticVariation 0.01 disgenet
Ichthyosis, Lamellar IL1A disease C0079154 Biomarker 0.01 disgenet
Ichthyosis, Lamellar SLC26A4 disease C0079154 GeneticVariation 0.01 disgenet
Ichthyosis, Lamellar DMKN disease C0079154 Biomarker 0.01 disgenet
Ichthyosis, Lamellar COL17A1 disease C0079154 GeneticVariation 0.01 disgenet
Ichthyosis, Lamellar LOX disease C0079154 GeneticVariation 0.01 disgenet
Ichthyosis, Lamellar ELOVL4 NA C0079154 NA NA orphanet
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