Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Apparent Mineralocorticoid Excess Syndrome HSD11B2 disease C0342488 GermlineCausalMutation 0.55 disgenet
Apparent Mineralocorticoid Excess Syndrome HSD11B2 disease C0342488 GeneticVariation 0.55 disgenet
Apparent Mineralocorticoid Excess Syndrome HSD11B2 disease C0342488 Biomarker 0.55 disgenet
Apparent Mineralocorticoid Excess Syndrome REN disease C0342488 AlteredExpression 0.04 disgenet
Apparent Mineralocorticoid Excess Syndrome REN disease C0342488 Biomarker 0.04 disgenet
Apparent Mineralocorticoid Excess Syndrome REN disease C0342488 GeneticVariation 0.04 disgenet
Apparent Mineralocorticoid Excess Syndrome HSD11B1 disease C0342488 GeneticVariation 0.01 disgenet
Apparent Mineralocorticoid Excess Syndrome NR3C2 disease C0342488 AlteredExpression 0.01 disgenet
Apparent Mineralocorticoid Excess Syndrome CFTR disease C0342488 GeneticVariation 0.01 disgenet
Apparent Mineralocorticoid Excess Syndrome SLC26A4 disease C0342488 GeneticVariation 0.01 disgenet
Apparent Mineralocorticoid Excess Syndrome KNSTRN disease C0342488 GeneticVariation 0.01 disgenet
Apparent Mineralocorticoid Excess Syndrome SLC26A3 disease C0342488 GeneticVariation 0.01 disgenet
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