Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Sex Development Disorder HSD17B3 group C0036875 Biomarker 0.36 orphanet , disgenet
Sex Development Disorder HSD17B3 group C0036875 GeneticVariation 0.36 orphanet , disgenet
Sex Development Disorder LHCGR group C0036875 GeneticVariation 0.32 disgenet
Sex Development Disorder LHCGR group C0036875 Biomarker 0.32 disgenet
Sex Development Disorder AKR1C1 group C0036875 Biomarker 0.3 disgenet
Sex Development Disorder PPP1R12A group C0036875 Biomarker 0.3 disgenet
Sex Development Disorder DHCR7 group C0036875 Biomarker 0.3 disgenet
Sex Development Disorder AKR1C2 group C0036875 Biomarker 0.3 orphanet , disgenet
Sex Development Disorder AKR1C3 group C0036875 Biomarker 0.3 disgenet
Sex Development Disorder NR5A1 group C0036875 Biomarker 0.1 disgenet
Sex Development Disorder NR5A1 group C0036875 AlteredExpression 0.1 disgenet
Sex Development Disorder NR5A1 group C0036875 GeneticVariation 0.1 disgenet
Sex Development Disorder SRY group C0036875 GeneticVariation 0.09 disgenet
Sex Development Disorder SRY group C0036875 Biomarker 0.09 disgenet
Sex Development Disorder SOX9 group C0036875 GeneticVariation 0.08 disgenet
Sex Development Disorder SOX9 group C0036875 AlteredExpression 0.08 disgenet
Sex Development Disorder SOX9 group C0036875 Biomarker 0.08 disgenet
Sex Development Disorder AR group C0036875 GeneticVariation 0.07 disgenet
Sex Development Disorder AR group C0036875 Biomarker 0.07 disgenet
Sex Development Disorder STAR group C0036875 Biomarker 0.03 disgenet
Sex Development Disorder STAR group C0036875 GeneticVariation 0.03 disgenet
Sex Development Disorder RSPO1 group C0036875 AlteredExpression 0.02 disgenet
Sex Development Disorder RSPO1 group C0036875 Biomarker 0.02 disgenet
Sex Development Disorder CYP2B6 group C0036875 GeneticVariation 0.02 disgenet
Sex Development Disorder CYP2B6 group C0036875 Biomarker 0.02 disgenet
Sex Development Disorder SOX10 group C0036875 Biomarker 0.02 disgenet
Sex Development Disorder SRD5A2 group C0036875 GeneticVariation 0.02 orphanet , disgenet
Sex Development Disorder SRD5A2 group C0036875 Biomarker 0.02 orphanet , disgenet
Sex Development Disorder AMH group C0036875 Biomarker 0.02 disgenet
Sex Development Disorder TSPY1 group C0036875 Biomarker 0.02 disgenet
Sex Development Disorder GADD45G group C0036875 Biomarker 0.01 disgenet
Sex Development Disorder TSPYL1 group C0036875 GeneticVariation 0.01 disgenet
Sex Development Disorder GATA4 group C0036875 GeneticVariation 0.01 disgenet
Sex Development Disorder KLK3 group C0036875 Biomarker 0.01 disgenet
Sex Development Disorder CYP19A1 group C0036875 GeneticVariation 0.01 disgenet
Sex Development Disorder CBX2 group C0036875 Biomarker 0.01 disgenet
Sex Development Disorder CYP17A1 group C0036875 GeneticVariation 0.01 orphanet , disgenet
Sex Development Disorder MAMLD1 group C0036875 Biomarker 0.01 disgenet
Sex Development Disorder WNT5A group C0036875 GeneticVariation 0.01 disgenet
Sex Development Disorder QPCT group C0036875 Biomarker 0.01 disgenet
Sex Development Disorder HHAT group C0036875 GeneticVariation 0.01 disgenet
Sex Development Disorder DMRT1 group C0036875 Biomarker 0.01 disgenet
Sex Development Disorder TSPY10 group C0036875 Biomarker 0.01 disgenet
Sex Development Disorder FGF9 group C0036875 Biomarker 0.01 disgenet
Sex Development Disorder CYP11A1 group C0036875 Biomarker 0.01 disgenet
Sex Development Disorder WWOX group C0036875 GeneticVariation 0.01 disgenet
Sex Development Disorder DECR1 group C0036875 GeneticVariation 0.01 disgenet
Sex Development Disorder TSPY3 group C0036875 Biomarker 0.01 disgenet
Sex Development Disorder MAP3K4 group C0036875 AlteredExpression 0.01 disgenet
Sex Development Disorder FOXF2 group C0036875 GeneticVariation 0.01 disgenet
Sex Development Disorder PPIG group C0036875 GeneticVariation 0.01 disgenet
Sex Development Disorder AKR1C4 NA C0036875 NA NA orphanet
Sex Development Disorder CYB5A NA C0036875 NA NA orphanet
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