Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Ichthyoses, X-Linked STS disease C0079588 CausalMutation 0.8 orphanet , disgenet
Ichthyoses, X-Linked STS disease C0079588 GeneticVariation 0.8 orphanet , disgenet
Ichthyoses, X-Linked STS disease C0079588 Biomarker 0.8 orphanet , disgenet
Ichthyoses, X-Linked STS disease C0079588 GermlineCausalMutation 0.8 orphanet , disgenet
Ichthyoses, X-Linked STS disease C0079588 AlteredExpression 0.8 orphanet , disgenet
Ichthyoses, X-Linked MDM2 disease C0079588 GeneticVariation 0.1 disgenet
Ichthyoses, X-Linked TP53 disease C0079588 GeneticVariation 0.1 disgenet
Ichthyoses, X-Linked TP53 disease C0079588 AlteredExpression 0.1 disgenet
Ichthyoses, X-Linked TP53 disease C0079588 Biomarker 0.1 disgenet
Ichthyoses, X-Linked MDM2 disease C0079588 Biomarker 0.1 disgenet
Ichthyoses, X-Linked MDM2 disease C0079588 AlteredExpression 0.1 disgenet
Ichthyoses, X-Linked FLG disease C0079588 GeneticVariation 0.08 disgenet
Ichthyoses, X-Linked FLG disease C0079588 Biomarker 0.08 disgenet
Ichthyoses, X-Linked EGFR disease C0079588 Biomarker 0.06 disgenet
Ichthyoses, X-Linked EGFR disease C0079588 AlteredExpression 0.06 disgenet
Ichthyoses, X-Linked AKT1 disease C0079588 Biomarker 0.05 disgenet
Ichthyoses, X-Linked SMUG1 disease C0079588 Biomarker 0.05 disgenet
Ichthyoses, X-Linked TNF disease C0079588 GeneticVariation 0.04 disgenet
Ichthyoses, X-Linked TNF disease C0079588 AlteredExpression 0.04 disgenet
Ichthyoses, X-Linked PDGFRA disease C0079588 Biomarker 0.04 disgenet
Ichthyoses, X-Linked CRP disease C0079588 AlteredExpression 0.04 disgenet
Ichthyoses, X-Linked CRP disease C0079588 Biomarker 0.04 disgenet
Ichthyoses, X-Linked CDKN2A disease C0079588 GeneticVariation 0.04 disgenet
Ichthyoses, X-Linked VCX3A disease C0079588 Biomarker 0.04 disgenet
Ichthyoses, X-Linked VCX3A disease C0079588 GeneticVariation 0.04 disgenet
Ichthyoses, X-Linked CDKN2A disease C0079588 AlteredExpression 0.04 disgenet
Ichthyoses, X-Linked PTEN disease C0079588 GeneticVariation 0.04 disgenet
Ichthyoses, X-Linked TNF disease C0079588 Biomarker 0.04 disgenet
Ichthyoses, X-Linked PTEN disease C0079588 AlteredExpression 0.04 disgenet
Ichthyoses, X-Linked VEGFA disease C0079588 Biomarker 0.04 disgenet
Ichthyoses, X-Linked PTEN disease C0079588 Biomarker 0.04 disgenet
Ichthyoses, X-Linked CD274 disease C0079588 AlteredExpression 0.04 disgenet
Ichthyoses, X-Linked VEGFA disease C0079588 AlteredExpression 0.04 disgenet
Ichthyoses, X-Linked CD274 disease C0079588 Biomarker 0.04 disgenet
Ichthyoses, X-Linked IGF1 disease C0079588 AlteredExpression 0.03 disgenet
Ichthyoses, X-Linked ANOS1 disease C0079588 Biomarker 0.03 disgenet
Ichthyoses, X-Linked ANOS1 disease C0079588 GeneticVariation 0.03 disgenet
Ichthyoses, X-Linked IGF1 disease C0079588 Biomarker 0.03 disgenet
Ichthyoses, X-Linked BRCA1 disease C0079588 GeneticVariation 0.03 disgenet
Ichthyoses, X-Linked BRCA1 disease C0079588 Biomarker 0.03 disgenet
Ichthyoses, X-Linked ABCB1 disease C0079588 Biomarker 0.03 disgenet
Ichthyoses, X-Linked HIF1A disease C0079588 Biomarker 0.03 disgenet
Ichthyoses, X-Linked HIF1A disease C0079588 AlteredExpression 0.03 disgenet
Ichthyoses, X-Linked ABCB1 disease C0079588 AlteredExpression 0.03 disgenet
Ichthyoses, X-Linked HSPB2 disease C0079588 GeneticVariation 0.02 disgenet
Ichthyoses, X-Linked CD44 disease C0079588 Biomarker 0.02 disgenet
Ichthyoses, X-Linked HSPB1 disease C0079588 AlteredExpression 0.02 disgenet
Ichthyoses, X-Linked PECAM1 disease C0079588 AlteredExpression 0.02 disgenet
Ichthyoses, X-Linked SERPINE1 disease C0079588 AlteredExpression 0.02 disgenet
Ichthyoses, X-Linked MUC5B disease C0079588 GeneticVariation 0.02 disgenet
Ichthyoses, X-Linked HSPB1 disease C0079588 GeneticVariation 0.02 disgenet
Ichthyoses, X-Linked DMD disease C0079588 GeneticVariation 0.02 disgenet
Ichthyoses, X-Linked KIT disease C0079588 AlteredExpression 0.02 disgenet
Ichthyoses, X-Linked KDR disease C0079588 Biomarker 0.02 disgenet
Ichthyoses, X-Linked RASSF1 disease C0079588 PosttranslationalModification 0.02 disgenet
Ichthyoses, X-Linked SERPINE1 disease C0079588 Biomarker 0.02 disgenet
Ichthyoses, X-Linked PARP1 disease C0079588 GeneticVariation 0.02 disgenet
Ichthyoses, X-Linked KIT disease C0079588 GeneticVariation 0.02 disgenet
Ichthyoses, X-Linked BCL2 disease C0079588 AlteredExpression 0.02 disgenet
Ichthyoses, X-Linked MMP9 disease C0079588 AlteredExpression 0.02 disgenet
Ichthyoses, X-Linked ABCC1 disease C0079588 Biomarker 0.02 disgenet
Ichthyoses, X-Linked CHEK1 disease C0079588 Biomarker 0.02 disgenet
Ichthyoses, X-Linked VIM disease C0079588 Biomarker 0.02 disgenet
Ichthyoses, X-Linked CD44 disease C0079588 AlteredExpression 0.02 disgenet
Ichthyoses, X-Linked PARP1 disease C0079588 Biomarker 0.02 disgenet
Ichthyoses, X-Linked MMP9 disease C0079588 Biomarker 0.02 disgenet
Ichthyoses, X-Linked MSH2 disease C0079588 AlteredExpression 0.02 disgenet
Ichthyoses, X-Linked HSPB3 disease C0079588 GeneticVariation 0.02 disgenet
Ichthyoses, X-Linked PDCD1 disease C0079588 AlteredExpression 0.02 disgenet
Ichthyoses, X-Linked EGF disease C0079588 AlteredExpression 0.02 disgenet
Ichthyoses, X-Linked PECAM1 disease C0079588 Biomarker 0.02 disgenet
Ichthyoses, X-Linked VIM disease C0079588 AlteredExpression 0.02 disgenet
Ichthyoses, X-Linked MLH1 disease C0079588 PosttranslationalModification 0.02 disgenet
Ichthyoses, X-Linked EWSR1 disease C0079588 GeneticVariation 0.02 disgenet
Ichthyoses, X-Linked EGF disease C0079588 Biomarker 0.02 disgenet
Ichthyoses, X-Linked CTNNB1 disease C0079588 Biomarker 0.02 disgenet
Ichthyoses, X-Linked CTNNB1 disease C0079588 AlteredExpression 0.02 disgenet
Ichthyoses, X-Linked HSPB3 disease C0079588 AlteredExpression 0.02 disgenet
Ichthyoses, X-Linked MUC5B disease C0079588 Biomarker 0.02 disgenet
Ichthyoses, X-Linked MLH1 disease C0079588 AlteredExpression 0.02 disgenet
Ichthyoses, X-Linked HEATR3 disease C0079588 Biomarker 0.02 disgenet
Ichthyoses, X-Linked ABCC1 disease C0079588 AlteredExpression 0.02 disgenet
Ichthyoses, X-Linked HSPB2 disease C0079588 AlteredExpression 0.02 disgenet
Ichthyoses, X-Linked COL11A2 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked ANXA5 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked ERCC1 disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked COL7A1 disease C0079588 GeneticVariation 0.01 disgenet
Ichthyoses, X-Linked CX3CL1 disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked MIRLET7I disease C0079588 GeneticVariation 0.01 disgenet
Ichthyoses, X-Linked SETD2 disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked BEST1 disease C0079588 GeneticVariation 0.01 disgenet
Ichthyoses, X-Linked POLD1 disease C0079588 GeneticVariation 0.01 disgenet
Ichthyoses, X-Linked TGFB1 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked CREG1 disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked SS18 disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked CSPG4 disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked VCX3B disease C0079588 GeneticVariation 0.01 disgenet
Ichthyoses, X-Linked CHEK2 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked CCL2 disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked MTAP disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked CD68 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked RTN4R disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked CD47 disease C0079588 GeneticVariation 0.01 disgenet
Ichthyoses, X-Linked MITF disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked PUDP disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked GSTA1 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked BRCA2 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked IRF8 disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked UBASH3A disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked MKI67 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked TIMP1 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked ELANE disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked CDC25C disease C0079588 GeneticVariation 0.01 disgenet
Ichthyoses, X-Linked THBD disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked CFLAR disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked VIP disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked TIMP2 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked MIR1226 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked BRD2 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked MMP2 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked FBP2 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked HRAS disease C0079588 GeneticVariation 0.01 disgenet
Ichthyoses, X-Linked MS4A1 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked MIR34B disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked LOC110806263 disease C0079588 GeneticVariation 0.01 disgenet
Ichthyoses, X-Linked HPGD disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked MRC1 disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked CDK1 disease C0079588 GeneticVariation 0.01 disgenet
Ichthyoses, X-Linked LAMB1 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked CSF2 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked PLAGL1 disease C0079588 PosttranslationalModification 0.01 disgenet
Ichthyoses, X-Linked PTK2B disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked BMP2 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked PSC disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked PIK3R2 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked IL33 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked TGM1 disease C0079588 GeneticVariation 0.01 disgenet
Ichthyoses, X-Linked CASP3 disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked ARSA disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked EPAS1 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked PIK3CD disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked NME1 disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked PRIMA1 disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked ERCC5 disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked GAB2 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked PROM1 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked MIR210 disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked STAR disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked MDM4 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked PIK3CG disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked HMGA2 disease C0079588 GeneticVariation 0.01 disgenet
Ichthyoses, X-Linked HPGDS disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked LGR5 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked EPHB4 disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked IL1B disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked TNFSF10 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked CFH disease C0079588 GeneticVariation 0.01 disgenet
Ichthyoses, X-Linked HIF3A disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked PIK3CB disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked SPINK5 disease C0079588 GeneticVariation 0.01 disgenet
Ichthyoses, X-Linked ERCC2 disease C0079588 GeneticVariation 0.01 disgenet
Ichthyoses, X-Linked STAT3 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked FMR1 disease C0079588 GeneticVariation 0.01 disgenet
Ichthyoses, X-Linked MGMT disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked PIWIL2 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked HCCS disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked TIMM8A disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked TOP2A disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked ALB disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked LGALS1 disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked BRAF disease C0079588 GeneticVariation 0.01 disgenet
Ichthyoses, X-Linked ERBB2 disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked FOSL1 disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked GADD45A disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked EPHB2 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked TYMS disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked SSX2B disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked MLRL disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked SUMF1 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked HTC2 disease C0079588 GeneticVariation 0.01 disgenet
Ichthyoses, X-Linked PEBP1 disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked RARA disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked MIR215 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked MAPK1 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked RAB40B disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked SSX2 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked FOS disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked IGF2 disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked MAPK8 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked PIK3CA disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked MIB1 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked IL6 disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked VCX disease C0079588 GeneticVariation 0.01 disgenet
Ichthyoses, X-Linked PYCARD disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked LPP-AS2 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked WNT5A disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked EMSLR disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked ALK disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked STOM disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked ABCB4 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked CD8A disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked HPSE disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked NLGN4X disease C0079588 GeneticVariation 0.01 disgenet
Ichthyoses, X-Linked TBC1D9 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked PSD disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked KRT20 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked MIR152 disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked VEGFC disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked SHBG disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked CCL7 disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked MIEF1 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked SERPINA5 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked SMARCB1 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked MAPK8IP2 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked DEPDC1B disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked LAG3 disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked TST disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked SPP1 disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked MTOR disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked PRB2 disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked CA9 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked GLB1 disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked NRAS disease C0079588 GeneticVariation 0.01 disgenet
Ichthyoses, X-Linked KLK7 disease C0079588 GeneticVariation 0.01 disgenet
Ichthyoses, X-Linked FOXP3 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked FGFR1 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked MUC1 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked TERT disease C0079588 GeneticVariation 0.01 disgenet
Ichthyoses, X-Linked MIR429 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked MYC disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked EZR disease C0079588 GeneticVariation 0.01 disgenet
Ichthyoses, X-Linked TACC3 disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked IDS disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked PRKCB disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked PCLAF disease C0079588 Biomarker 0.01 disgenet
Ichthyoses, X-Linked ATF1 disease C0079588 GeneticVariation 0.01 disgenet
Ichthyoses, X-Linked H3P10 disease C0079588 AlteredExpression 0.01 disgenet
Ichthyoses, X-Linked RASGRF1 disease C0079588 GeneticVariation 0.01 disgenet
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