Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Dosage-sensitive sex reversal NR0B1 disease C1848296 GeneticVariation 0.7 disgenet
Dosage-sensitive sex reversal NR0B1 disease C1848296 AlteredExpression 0.7 disgenet
Dosage-sensitive sex reversal NR0B1 disease C1848296 CausalMutation 0.7 disgenet
Dosage-sensitive sex reversal NR0B1 disease C1848296 Biomarker 0.7 disgenet
Dosage-sensitive sex reversal TNF disease C1848296 Biomarker 0.1 disgenet
Dosage-sensitive sex reversal TNF disease C1848296 AlteredExpression 0.1 disgenet
Dosage-sensitive sex reversal TNF disease C1848296 GeneticVariation 0.1 disgenet
Dosage-sensitive sex reversal COL2A1 disease C1848296 GeneticVariation 0.1 disgenet
Dosage-sensitive sex reversal COL2A1 disease C1848296 Biomarker 0.1 disgenet
Dosage-sensitive sex reversal NR5A1 disease C1848296 Biomarker 0.07 disgenet
Dosage-sensitive sex reversal NR5A1 disease C1848296 GeneticVariation 0.07 disgenet
Dosage-sensitive sex reversal IL10 disease C1848296 Biomarker 0.06 disgenet
Dosage-sensitive sex reversal IL10 disease C1848296 AlteredExpression 0.06 disgenet
Dosage-sensitive sex reversal IL6 disease C1848296 AlteredExpression 0.06 disgenet
Dosage-sensitive sex reversal IL6 disease C1848296 Biomarker 0.06 disgenet
Dosage-sensitive sex reversal MPO disease C1848296 AlteredExpression 0.05 disgenet
Dosage-sensitive sex reversal IL1B disease C1848296 AlteredExpression 0.05 disgenet
Dosage-sensitive sex reversal IL1B disease C1848296 Biomarker 0.05 disgenet
Dosage-sensitive sex reversal MPO disease C1848296 Biomarker 0.05 disgenet
Dosage-sensitive sex reversal IL17A disease C1848296 AlteredExpression 0.04 disgenet
Dosage-sensitive sex reversal PTGS2 disease C1848296 AlteredExpression 0.04 disgenet
Dosage-sensitive sex reversal IL17A disease C1848296 Biomarker 0.04 disgenet
Dosage-sensitive sex reversal PTGS2 disease C1848296 Biomarker 0.04 disgenet
Dosage-sensitive sex reversal CCL2 disease C1848296 Biomarker 0.03 disgenet
Dosage-sensitive sex reversal NFE2L2 disease C1848296 AlteredExpression 0.03 disgenet
Dosage-sensitive sex reversal GABPA disease C1848296 AlteredExpression 0.03 disgenet
Dosage-sensitive sex reversal NFE2L2 disease C1848296 Biomarker 0.03 disgenet
Dosage-sensitive sex reversal CCL2 disease C1848296 AlteredExpression 0.03 disgenet
Dosage-sensitive sex reversal IFNG disease C1848296 AlteredExpression 0.03 disgenet
Dosage-sensitive sex reversal GABPA disease C1848296 Biomarker 0.03 disgenet
Dosage-sensitive sex reversal HLA-A disease C1848296 GeneticVariation 0.03 disgenet
Dosage-sensitive sex reversal HLA-A disease C1848296 Biomarker 0.03 disgenet
Dosage-sensitive sex reversal PLCE1 disease C1848296 GeneticVariation 0.03 disgenet
Dosage-sensitive sex reversal OCLN disease C1848296 Biomarker 0.02 disgenet
Dosage-sensitive sex reversal WNK1 disease C1848296 Biomarker 0.02 disgenet
Dosage-sensitive sex reversal TLR2 disease C1848296 AlteredExpression 0.02 disgenet
Dosage-sensitive sex reversal CBFA2T3 disease C1848296 Biomarker 0.02 disgenet
Dosage-sensitive sex reversal S100A9 disease C1848296 Biomarker 0.02 disgenet
Dosage-sensitive sex reversal OCLN disease C1848296 AlteredExpression 0.02 disgenet
Dosage-sensitive sex reversal HLA-DRB1 disease C1848296 Biomarker 0.02 disgenet
Dosage-sensitive sex reversal CASP3 disease C1848296 AlteredExpression 0.02 disgenet
Dosage-sensitive sex reversal RELA disease C1848296 Biomarker 0.02 disgenet
Dosage-sensitive sex reversal TLR2 disease C1848296 Biomarker 0.02 disgenet
Dosage-sensitive sex reversal WNK1 disease C1848296 AlteredExpression 0.02 disgenet
Dosage-sensitive sex reversal RBM45 disease C1848296 GeneticVariation 0.02 disgenet
Dosage-sensitive sex reversal TAP1 disease C1848296 GeneticVariation 0.02 disgenet
Dosage-sensitive sex reversal HLA-DRB1 disease C1848296 GeneticVariation 0.02 disgenet
Dosage-sensitive sex reversal COX2 disease C1848296 Biomarker 0.02 disgenet
Dosage-sensitive sex reversal RELA disease C1848296 AlteredExpression 0.02 disgenet
Dosage-sensitive sex reversal CYP11A1 disease C1848296 Biomarker 0.02 disgenet
Dosage-sensitive sex reversal CBLIF disease C1848296 Biomarker 0.02 disgenet
Dosage-sensitive sex reversal BCL2 disease C1848296 Biomarker 0.02 disgenet
Dosage-sensitive sex reversal CXCL1 disease C1848296 AlteredExpression 0.02 disgenet
Dosage-sensitive sex reversal SYT1 disease C1848296 Biomarker 0.02 disgenet
Dosage-sensitive sex reversal CBLIF disease C1848296 AlteredExpression 0.02 disgenet
Dosage-sensitive sex reversal MPZ disease C1848296 GeneticVariation 0.02 disgenet
Dosage-sensitive sex reversal PLAU disease C1848296 Biomarker 0.02 disgenet
Dosage-sensitive sex reversal BCL2 disease C1848296 AlteredExpression 0.02 disgenet
Dosage-sensitive sex reversal S100A9 disease C1848296 AlteredExpression 0.02 disgenet
Dosage-sensitive sex reversal NLRP3 disease C1848296 AlteredExpression 0.02 disgenet
Dosage-sensitive sex reversal CYP11A1 disease C1848296 GeneticVariation 0.02 disgenet
Dosage-sensitive sex reversal GORASP1 disease C1848296 AlteredExpression 0.02 disgenet
Dosage-sensitive sex reversal NLRP3 disease C1848296 Biomarker 0.02 disgenet
Dosage-sensitive sex reversal CTNNB1 disease C1848296 Biomarker 0.02 disgenet
Dosage-sensitive sex reversal MTCO2P12 disease C1848296 Biomarker 0.02 disgenet
Dosage-sensitive sex reversal GORASP1 disease C1848296 Biomarker 0.02 disgenet
Dosage-sensitive sex reversal MPZ disease C1848296 Biomarker 0.02 disgenet
Dosage-sensitive sex reversal PMP22 disease C1848296 GeneticVariation 0.02 disgenet
Dosage-sensitive sex reversal PMP22 disease C1848296 Biomarker 0.02 disgenet
Dosage-sensitive sex reversal CTNNB1 disease C1848296 AlteredExpression 0.02 disgenet
Dosage-sensitive sex reversal SYT1 disease C1848296 AlteredExpression 0.02 disgenet
Dosage-sensitive sex reversal UCP2 disease C1848296 GeneticVariation 0.01 disgenet
Dosage-sensitive sex reversal HLA-B disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal CD68 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal MMP10 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal SAT1 disease C1848296 GeneticVariation 0.01 disgenet
Dosage-sensitive sex reversal FCGR3A disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal SIRT1 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal CYBB disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal MEFV disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal CLDN3 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal NTRK1 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal AKT1 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal IL23A disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal NR5A2 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal DECR1 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal CYP11B1 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal IGF2BP1 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal S100A12 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal MC2R disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal TAP2 disease C1848296 GeneticVariation 0.01 disgenet
Dosage-sensitive sex reversal TSPO disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal ARNTL disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal HM13 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal MRTFA disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal TJP1 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal AMH disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal CMA1 disease C1848296 GeneticVariation 0.01 disgenet
Dosage-sensitive sex reversal POMC disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal ZNF281 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal ARG1 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal IL17F disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal USO1 disease C1848296 GeneticVariation 0.01 disgenet
Dosage-sensitive sex reversal TLR6 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal EGFR disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal CLDN2 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal BCL3 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal IL1RN disease C1848296 GeneticVariation 0.01 disgenet
Dosage-sensitive sex reversal NR4A1 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal LPIN1 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal CAT disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal IVNS1ABP disease C1848296 GeneticVariation 0.01 disgenet
Dosage-sensitive sex reversal NFKBIA disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal HPSE disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal STAT3 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal SLC22A4 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal CALCA disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal CLDN4 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal PBX1 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal CUX1 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal ANGPTL4 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal SOX9 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal MAPK3 disease C1848296 GeneticVariation 0.01 disgenet
Dosage-sensitive sex reversal CCL11 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal MMP3 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal SLC7A5 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal KLF5 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal GPR4 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal MIR146B disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal VEGFA disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal CASP1 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal LINC02210-CRHR1 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal TPSB2 disease C1848296 GeneticVariation 0.01 disgenet
Dosage-sensitive sex reversal IL12B disease C1848296 GeneticVariation 0.01 disgenet
Dosage-sensitive sex reversal EGLN2 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal NOX1 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal PLCB4 disease C1848296 GeneticVariation 0.01 disgenet
Dosage-sensitive sex reversal IMMP1L disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal CITED2 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal ABCB1 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal TLR4 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal CRH disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal NXF1 disease C1848296 GeneticVariation 0.01 disgenet
Dosage-sensitive sex reversal VDR disease C1848296 GeneticVariation 0.01 disgenet
Dosage-sensitive sex reversal SOCS1 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal AKR1B1 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal CRHR1 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal SEC14L2 disease C1848296 GeneticVariation 0.01 disgenet
Dosage-sensitive sex reversal NOX4 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal MUC2 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal ESR1 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal MAPK8 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal TPSAB1 disease C1848296 GeneticVariation 0.01 disgenet
Dosage-sensitive sex reversal S100A8 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal PTPN11 disease C1848296 GeneticVariation 0.01 disgenet
Dosage-sensitive sex reversal RUNX2 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal ITGA1 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal PILRA disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal CHRM3 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal TRPM8 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal TNFSF15 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal IL25 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal GPX2 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal MMP9 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal C3 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal CYP11B2 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal NR1I2 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal DUSP10 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal FGL2 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal SCAF11 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal IDO1 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal RUNX1 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal HGF disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal ENTPD1 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal ESRRB disease C1848296 GeneticVariation 0.01 disgenet
Dosage-sensitive sex reversal SLC3A2 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal RIPK3 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal FLNB disease C1848296 GeneticVariation 0.01 disgenet
Dosage-sensitive sex reversal CDH1 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal MICB disease C1848296 GeneticVariation 0.01 disgenet
Dosage-sensitive sex reversal IL18 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal HP disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal STAR disease C1848296 GeneticVariation 0.01 disgenet
Dosage-sensitive sex reversal RAB4B-EGLN2 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal MT1A disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal PTK2B disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal ZBP1 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal HLTF disease C1848296 GeneticVariation 0.01 disgenet
Dosage-sensitive sex reversal GAS6 disease C1848296 Biomarker 0.01 disgenet
Dosage-sensitive sex reversal NQO1 disease C1848296 AlteredExpression 0.01 disgenet
Dosage-sensitive sex reversal MYDGF disease C1848296 Biomarker 0.01 disgenet
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