Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Gonadal Dysgenesis, 46,XY SRY disease C0018054 GeneticVariation 0.4 disgenet
Gonadal Dysgenesis, 46,XY SRY disease C0018054 Biomarker 0.4 disgenet
Gonadal Dysgenesis, 46,XY NR5A1 disease C0018054 Biomarker 0.35 disgenet
Gonadal Dysgenesis, 46,XY NR5A1 disease C0018054 GeneticVariation 0.35 disgenet
Gonadal Dysgenesis, 46,XY SOX9 disease C0018054 Biomarker 0.33 disgenet
Gonadal Dysgenesis, 46,XY SOX9 disease C0018054 GeneticVariation 0.33 disgenet
Gonadal Dysgenesis, 46,XY SOX9 disease C0018054 GermlineCausalMutation 0.33 disgenet
Gonadal Dysgenesis, 46,XY ZFPM2 disease C0018054 GeneticVariation 0.32 disgenet
Gonadal Dysgenesis, 46,XY MAP3K1 disease C0018054 GeneticVariation 0.32 disgenet
Gonadal Dysgenesis, 46,XY DMRT1 disease C0018054 Biomarker 0.32 disgenet
Gonadal Dysgenesis, 46,XY DMRT1 disease C0018054 GeneticVariation 0.32 disgenet
Gonadal Dysgenesis, 46,XY MAP3K1 disease C0018054 GermlineCausalMutation 0.32 disgenet
Gonadal Dysgenesis, 46,XY ZFPM2 disease C0018054 Biomarker 0.32 disgenet
Gonadal Dysgenesis, 46,XY WT1 disease C0018054 GeneticVariation 0.31 disgenet
Gonadal Dysgenesis, 46,XY DHH disease C0018054 Biomarker 0.31 orphanet , disgenet
Gonadal Dysgenesis, 46,XY DHH disease C0018054 GeneticVariation 0.31 orphanet , disgenet
Gonadal Dysgenesis, 46,XY CBX2 disease C0018054 GermlineCausalMutation 0.3 disgenet
Gonadal Dysgenesis, 46,XY DHX37 disease C0018054 GeneticVariation 0.02 disgenet
Gonadal Dysgenesis, 46,XY FAM189A2 disease C0018054 Biomarker 0.01 disgenet
Gonadal Dysgenesis, 46,XY TSPY10 disease C0018054 AlteredExpression 0.01 disgenet
Gonadal Dysgenesis, 46,XY TSPY1 disease C0018054 AlteredExpression 0.01 disgenet
Gonadal Dysgenesis, 46,XY F8 disease C0018054 GeneticVariation 0.01 disgenet
Gonadal Dysgenesis, 46,XY PPP2R3C disease C0018054 GeneticVariation 0.01 disgenet
Gonadal Dysgenesis, 46,XY DDX3Y disease C0018054 GeneticVariation 0.01 disgenet
Gonadal Dysgenesis, 46,XY CTNNB1 disease C0018054 AlteredExpression 0.01 disgenet
Gonadal Dysgenesis, 46,XY AMH disease C0018054 Biomarker 0.01 disgenet
Gonadal Dysgenesis, 46,XY STARD8 disease C0018054 Biomarker 0.01 disgenet
Gonadal Dysgenesis, 46,XY SGSM3 disease C0018054 GeneticVariation 0.01 disgenet
Gonadal Dysgenesis, 46,XY GATA4 disease C0018054 GeneticVariation 0.01 disgenet
Gonadal Dysgenesis, 46,XY RAC1 disease C0018054 GeneticVariation 0.01 disgenet
Gonadal Dysgenesis, 46,XY SOX3 disease C0018054 GeneticVariation 0.01 disgenet
Gonadal Dysgenesis, 46,XY PBX1 disease C0018054 GeneticVariation 0.01 disgenet
Gonadal Dysgenesis, 46,XY FGF9 disease C0018054 GeneticVariation 0.01 disgenet
Gonadal Dysgenesis, 46,XY TSPY3 disease C0018054 AlteredExpression 0.01 disgenet
Gonadal Dysgenesis, 46,XY FLNB disease C0018054 GeneticVariation 0.01 disgenet
Gonadal Dysgenesis, 46,XY ZFY disease C0018054 GeneticVariation 0.01 disgenet
Gonadal Dysgenesis, 46,XY NR0B1 disease C0018054 GeneticVariation 0.01 disgenet
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