Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Ichthyoses PNPLA1 disease C0020757 CausalMutation 0.44 disgenet
Ichthyoses PNPLA1 disease C0020757 GeneticVariation 0.44 disgenet
Ichthyoses PNPLA1 disease C0020757 Biomarker 0.44 disgenet
Ichthyoses GJB2 disease C0020757 GeneticVariation 0.43 disgenet
Ichthyoses GJB2 disease C0020757 Biomarker 0.43 disgenet
Ichthyoses SGPL1 disease C0020757 GeneticVariation 0.41 disgenet
Ichthyoses SGPL1 disease C0020757 Biomarker 0.41 disgenet
Ichthyoses SUPV3L1 disease C0020757 Biomarker 0.3 disgenet
Ichthyoses TGM1 disease C0020757 AlteredExpression 0.2 orphanet , disgenet
Ichthyoses STS disease C0020757 Biomarker 0.2 disgenet
Ichthyoses STS disease C0020757 AlteredExpression 0.2 disgenet
Ichthyoses TGM1 disease C0020757 GeneticVariation 0.2 orphanet , disgenet
Ichthyoses TGM1 disease C0020757 Biomarker 0.2 orphanet , disgenet
Ichthyoses MDM2 disease C0020757 Therapeutic 0.2 disgenet
Ichthyoses FLG disease C0020757 GeneticVariation 0.2 disgenet
Ichthyoses TGM1 disease C0020757 CausalMutation 0.2 orphanet , disgenet
Ichthyoses FLG disease C0020757 Biomarker 0.2 disgenet
Ichthyoses STS disease C0020757 GeneticVariation 0.2 disgenet
Ichthyoses FLG disease C0020757 CausalMutation 0.2 disgenet
Ichthyoses ABCA12 disease C0020757 GeneticVariation 0.18 disgenet
Ichthyoses ABCA12 disease C0020757 Biomarker 0.18 disgenet
Ichthyoses ALDH3A2 disease C0020757 AlteredExpression 0.17 disgenet
Ichthyoses ALDH3A2 disease C0020757 Biomarker 0.17 disgenet
Ichthyoses ST14 disease C0020757 GeneticVariation 0.17 orphanet , disgenet
Ichthyoses ALDH3A2 disease C0020757 GeneticVariation 0.17 disgenet
Ichthyoses ST14 disease C0020757 Biomarker 0.17 orphanet , disgenet
Ichthyoses ALOX12B disease C0020757 GeneticVariation 0.15 disgenet
Ichthyoses ALOX12B disease C0020757 CausalMutation 0.15 disgenet
Ichthyoses ALOX12B disease C0020757 Biomarker 0.15 disgenet
Ichthyoses ALOX12B disease C0020757 AlteredExpression 0.15 disgenet
Ichthyoses VPS33B disease C0020757 Biomarker 0.14 disgenet
Ichthyoses VPS33B disease C0020757 GeneticVariation 0.14 disgenet
Ichthyoses ALOXE3 disease C0020757 Biomarker 0.13 disgenet
Ichthyoses SNAP29 disease C0020757 GeneticVariation 0.13 disgenet
Ichthyoses SNAP29 disease C0020757 Biomarker 0.13 disgenet
Ichthyoses ALOXE3 disease C0020757 CausalMutation 0.13 disgenet
Ichthyoses ALOXE3 disease C0020757 AlteredExpression 0.13 disgenet
Ichthyoses ALOXE3 disease C0020757 GeneticVariation 0.13 disgenet
Ichthyoses ELOVL4 disease C0020757 GeneticVariation 0.12 disgenet
Ichthyoses CYP4F22 disease C0020757 Biomarker 0.12 disgenet
Ichthyoses SLC27A4 disease C0020757 GeneticVariation 0.12 disgenet
Ichthyoses SLC27A4 disease C0020757 Biomarker 0.12 disgenet
Ichthyoses CYP4F22 disease C0020757 GeneticVariation 0.12 disgenet
Ichthyoses ELOVL4 disease C0020757 Biomarker 0.12 disgenet
Ichthyoses NIPAL4 disease C0020757 GeneticVariation 0.12 disgenet
Ichthyoses NIPAL4 disease C0020757 Biomarker 0.12 disgenet
Ichthyoses KRT14 disease C0020757 Biomarker 0.11 disgenet
Ichthyoses KRT16 disease C0020757 Biomarker 0.11 disgenet
Ichthyoses MBTPS2 disease C0020757 Biomarker 0.11 orphanet , disgenet
Ichthyoses KRT16 disease C0020757 AlteredExpression 0.11 disgenet
Ichthyoses MBTPS2 disease C0020757 GeneticVariation 0.11 orphanet , disgenet
Ichthyoses ANOS1 disease C0020757 Biomarker 0.11 disgenet
Ichthyoses EBP disease C0020757 GeneticVariation 0.11 disgenet
Ichthyoses CLDN1 disease C0020757 GeneticVariation 0.11 disgenet
Ichthyoses EBP disease C0020757 Biomarker 0.11 disgenet
Ichthyoses SDR9C7 disease C0020757 Biomarker 0.11 disgenet
Ichthyoses AP1S1 disease C0020757 Biomarker 0.11 disgenet
Ichthyoses MPDU1 disease C0020757 GeneticVariation 0.11 disgenet
Ichthyoses ANOS1 disease C0020757 GeneticVariation 0.11 disgenet
Ichthyoses CERS3 disease C0020757 GeneticVariation 0.11 orphanet , disgenet
Ichthyoses MPDU1 disease C0020757 Biomarker 0.11 disgenet
Ichthyoses CLDN1 disease C0020757 Biomarker 0.11 disgenet
Ichthyoses KRT14 disease C0020757 GeneticVariation 0.11 disgenet
Ichthyoses CERS3 disease C0020757 Biomarker 0.11 orphanet , disgenet
Ichthyoses TGM5 disease C0020757 Biomarker 0.11 disgenet
Ichthyoses KRT6A disease C0020757 Biomarker 0.1 disgenet
Ichthyoses PEX11B disease C0020757 Biomarker 0.1 disgenet
Ichthyoses STIM1 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses IL17RD disease C0020757 Biomarker 0.1 disgenet
Ichthyoses AHSG disease C0020757 Biomarker 0.1 disgenet
Ichthyoses TRNS2 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses IL2RB disease C0020757 CausalMutation 0.1 disgenet
Ichthyoses CHD7 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses TARS1 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses PEX6 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses PEX3 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses SYNE1 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses FLRT3 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses ARSL disease C0020757 Biomarker 0.1 disgenet
Ichthyoses PEX26 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses GINS1 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses EFL1 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses RNF113A disease C0020757 Biomarker 0.1 disgenet
Ichthyoses COX3 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses NRAS disease C0020757 Biomarker 0.1 disgenet
Ichthyoses GTF2H5 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses SLURP1 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses CARD14 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses NSMF disease C0020757 Biomarker 0.1 disgenet
Ichthyoses SUMF1 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses SPRY4 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses PEX7 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses TMPRSS6 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses VIPAS39 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses SRD5A3 disease C0020757 CausalMutation 0.1 disgenet
Ichthyoses BLM disease C0020757 Biomarker 0.1 disgenet
Ichthyoses TRNL1 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses PEX5 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses PEX12 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses WDR11 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses PEX16 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses NOD2 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses KISS1R disease C0020757 Biomarker 0.1 disgenet
Ichthyoses MPLKIP disease C0020757 Biomarker 0.1 disgenet
Ichthyoses IL2RB disease C0020757 Biomarker 0.1 disgenet
Ichthyoses KRT2 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses HESX1 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses TRNH disease C0020757 Biomarker 0.1 disgenet
Ichthyoses PEX2 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses SULT2B1 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses DNAJC21 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses SNHG31 disease C0020757 GeneticVariation 0.1 disgenet
Ichthyoses PROK2 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses KRT1 disease C0020757 Biomarker 0.1 orphanet , disgenet
Ichthyoses SLC29A3 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses COX1 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses TRNQ disease C0020757 Biomarker 0.1 disgenet
Ichthyoses SEMA3A disease C0020757 Biomarker 0.1 disgenet
Ichthyoses ERCC2 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses PEX14 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses COX2 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses SRD5A3 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses PEX13 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses DOLK disease C0020757 Biomarker 0.1 disgenet
Ichthyoses MAP2K1 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses GTF2E2 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses LMNA disease C0020757 Biomarker 0.1 disgenet
Ichthyoses BRAF disease C0020757 Biomarker 0.1 disgenet
Ichthyoses SBDS disease C0020757 Biomarker 0.1 disgenet
Ichthyoses DUSP6 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses KRT6B disease C0020757 Biomarker 0.1 disgenet
Ichthyoses LIPN disease C0020757 Biomarker 0.1 disgenet
Ichthyoses CHKB disease C0020757 Biomarker 0.1 disgenet
Ichthyoses PROKR2 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses POMP disease C0020757 Biomarker 0.1 disgenet
Ichthyoses ND1 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses PIGL disease C0020757 Biomarker 0.1 disgenet
Ichthyoses COL4A5 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses COL7A1 disease C0020757 GeneticVariation 0.1 disgenet
Ichthyoses ERCC3 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses NLRP3 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses NEK9 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses FEZF1 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses GBA disease C0020757 Biomarker 0.1 disgenet
Ichthyoses PSAT1 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses MAP2K2 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses GJB6 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses CSTA disease C0020757 Biomarker 0.1 orphanet , disgenet
Ichthyoses FLG-AS1 disease C0020757 CausalMutation 0.1 disgenet
Ichthyoses FHL1 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses ITGB6 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses FGFR1 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses TRNF disease C0020757 Biomarker 0.1 disgenet
Ichthyoses SYNE2 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses ND5 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses FGF17 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses CARMIL2 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses PEX19 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses MSMO1 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses PHGDH disease C0020757 Biomarker 0.1 disgenet
Ichthyoses DCC disease C0020757 Biomarker 0.1 disgenet
Ichthyoses KRAS disease C0020757 Biomarker 0.1 disgenet
Ichthyoses PEX1 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses ABHD5 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses TMEM43 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses HS6ST1 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses SOX10 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses ORAI1 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses CCDC141 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses TRNW disease C0020757 Biomarker 0.1 disgenet
Ichthyoses KRT17 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses ND4 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses ND6 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses EMD disease C0020757 Biomarker 0.1 disgenet
Ichthyoses TRNS1 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses FGF8 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses PEX10 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses ABHD5 disease C0020757 GeneticVariation 0.1 disgenet
Ichthyoses SRP54 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses HRAS disease C0020757 Biomarker 0.1 disgenet
Ichthyoses TACR3 disease C0020757 Biomarker 0.1 disgenet
Ichthyoses PHYH disease C0020757 Biomarker 0.1 disgenet
Ichthyoses PNPLA2 disease C0020757 Biomarker 0.06 disgenet
Ichthyoses PNPLA2 disease C0020757 GeneticVariation 0.06 disgenet
Ichthyoses SPINK5 disease C0020757 Biomarker 0.05 disgenet
Ichthyoses SPINK5 disease C0020757 GeneticVariation 0.05 disgenet
Ichthyoses IL17A disease C0020757 Biomarker 0.03 disgenet
Ichthyoses KIF22 disease C0020757 Biomarker 0.02 disgenet
Ichthyoses AQP6 disease C0020757 Biomarker 0.02 disgenet
Ichthyoses LBR disease C0020757 Biomarker 0.02 disgenet
Ichthyoses IL23A disease C0020757 Biomarker 0.02 disgenet
Ichthyoses LBR disease C0020757 GeneticVariation 0.02 disgenet
Ichthyoses KRT10 disease C0020757 GeneticVariation 0.02 disgenet
Ichthyoses HSPB1 disease C0020757 AlteredExpression 0.01 disgenet
Ichthyoses PNPLA6 disease C0020757 Biomarker 0.01 disgenet
Ichthyoses NLGN4X disease C0020757 GeneticVariation 0.01 disgenet
Ichthyoses ERVK-32 disease C0020757 Biomarker 0.01 disgenet
Ichthyoses ARSA disease C0020757 Biomarker 0.01 disgenet
Ichthyoses CLDN7 disease C0020757 GeneticVariation 0.01 disgenet
Ichthyoses HSPB2 disease C0020757 AlteredExpression 0.01 disgenet
Ichthyoses BGN disease C0020757 Biomarker 0.01 disgenet
Ichthyoses SLC27A1 disease C0020757 GeneticVariation 0.01 disgenet
Ichthyoses CST6 disease C0020757 GeneticVariation 0.01 disgenet
Ichthyoses DSP disease C0020757 GeneticVariation 0.01 disgenet
Ichthyoses GATA3 disease C0020757 GeneticVariation 0.01 disgenet
Ichthyoses SLC26A4 disease C0020757 GeneticVariation 0.01 disgenet
Ichthyoses DMKN disease C0020757 Biomarker 0.01 disgenet
Ichthyoses ELOVL3 disease C0020757 Biomarker 0.01 disgenet
Ichthyoses HSD17B6 disease C0020757 GeneticVariation 0.01 disgenet
Ichthyoses PLIN1 disease C0020757 GeneticVariation 0.01 disgenet
Ichthyoses GAL disease C0020757 Biomarker 0.01 disgenet
Ichthyoses DMD disease C0020757 Biomarker 0.01 disgenet
Ichthyoses MX1 disease C0020757 Biomarker 0.01 disgenet
Ichthyoses TXNRD1 disease C0020757 GeneticVariation 0.01 disgenet
Ichthyoses AMY2B disease C0020757 GeneticVariation 0.01 disgenet
Ichthyoses PUDP disease C0020757 GeneticVariation 0.01 disgenet
Ichthyoses HSPB3 disease C0020757 AlteredExpression 0.01 disgenet
Ichthyoses SULT2A1 disease C0020757 Biomarker 0.01 disgenet
Ichthyoses ERVK-6 disease C0020757 Biomarker 0.01 disgenet
Ichthyoses IFNG disease C0020757 Biomarker 0.01 disgenet
Ichthyoses LPIN2 disease C0020757 Biomarker 0.01 disgenet
Ichthyoses FMR1 disease C0020757 Biomarker 0.01 disgenet
Ichthyoses HLA-DOA disease C0020757 AlteredExpression 0.01 disgenet
Ichthyoses IL17F disease C0020757 Biomarker 0.01 disgenet
Ichthyoses TNF disease C0020757 AlteredExpression 0.01 disgenet
Ichthyoses DGAT1 disease C0020757 Biomarker 0.01 disgenet
Ichthyoses ASPRV1 disease C0020757 Biomarker 0.01 disgenet
Ichthyoses IL36G disease C0020757 Biomarker 0.01 disgenet
Ichthyoses ABCA3 disease C0020757 GeneticVariation 0.01 disgenet
Ichthyoses AP1B1 disease C0020757 GeneticVariation 0.01 disgenet
Ichthyoses IL36B disease C0020757 Biomarker 0.01 disgenet
Ichthyoses VCX3A disease C0020757 GeneticVariation 0.01 disgenet
Ichthyoses FITM2 disease C0020757 GeneticVariation 0.01 disgenet
Ichthyoses JUN disease C0020757 Biomarker 0.01 disgenet
Ichthyoses IL22 disease C0020757 Biomarker 0.01 disgenet
Ichthyoses ADAMTS17 NA C0020757 NA NA orphanet
Ichthyoses LORICRIN NA C0020757 NA NA orphanet
Ichthyoses CLDN10 NA C0020757 NA NA orphanet
Ichthyoses SERPINB8 NA C0020757 NA NA orphanet
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