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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