Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
3b-Hydroxysteroid Dehydrogenase Deficiency HSD3B2 disease C0342471 GermlineCausalMutation 0.78 disgenet
3b-Hydroxysteroid Dehydrogenase Deficiency HSD3B2 disease C0342471 GeneticVariation 0.78 disgenet
3b-Hydroxysteroid Dehydrogenase Deficiency HSD3B2 disease C0342471 Biomarker 0.78 disgenet
3b-Hydroxysteroid Dehydrogenase Deficiency HSD3B2 disease C0342471 CausalMutation 0.78 disgenet
3b-Hydroxysteroid Dehydrogenase Deficiency CHST3 disease C0342471 AlteredExpression 0.1 disgenet
3b-Hydroxysteroid Dehydrogenase Deficiency CHST3 disease C0342471 Biomarker 0.1 disgenet
3b-Hydroxysteroid Dehydrogenase Deficiency CHST3 disease C0342471 GeneticVariation 0.1 disgenet
3b-Hydroxysteroid Dehydrogenase Deficiency POMC disease C0342471 Biomarker 0.06 disgenet
3b-Hydroxysteroid Dehydrogenase Deficiency POMC disease C0342471 GeneticVariation 0.06 disgenet
3b-Hydroxysteroid Dehydrogenase Deficiency POMC disease C0342471 AlteredExpression 0.06 disgenet
3b-Hydroxysteroid Dehydrogenase Deficiency HSD17B3 disease C0342471 Biomarker 0.02 disgenet
3b-Hydroxysteroid Dehydrogenase Deficiency HSD17B3 disease C0342471 GeneticVariation 0.02 disgenet
3b-Hydroxysteroid Dehydrogenase Deficiency TMPRSS6 disease C0342471 GeneticVariation 0.01 disgenet
3b-Hydroxysteroid Dehydrogenase Deficiency MTNR1B disease C0342471 GeneticVariation 0.01 disgenet
3b-Hydroxysteroid Dehydrogenase Deficiency CGA disease C0342471 GeneticVariation 0.01 disgenet
3b-Hydroxysteroid Dehydrogenase Deficiency LINC01194 disease C0342471 GeneticVariation 0.01 disgenet
3b-Hydroxysteroid Dehydrogenase Deficiency MT2A disease C0342471 GeneticVariation 0.01 disgenet
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