Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Chromosome 21 monosomy RUNX1 disease C0795875 Biomarker 0.01 disgenet
Chromosome 21 monosomy ITSN1 disease C0795875 Biomarker 0.01 disgenet
Chromosome 21 monosomy HSPA13 disease C0795875 GeneticVariation 0.01 disgenet
Chromosome 21 monosomy LAMC1 disease C0795875 AlteredExpression 0.01 disgenet
Chromosome 21 monosomy DYRK1A disease C0795875 Biomarker 0.01 disgenet
Chromosome 21 monosomy SOD1 disease C0795875 Biomarker 0.01 disgenet
Chromosome 21 monosomy APP disease C0795875 GeneticVariation 0.01 disgenet
Chromosome 21 monosomy GDF3 disease C0795875 AlteredExpression 0.01 disgenet
Chromosome 21 monosomy GABRB3 disease C0795875 AlteredExpression 0.01 disgenet
Chromosome 21 monosomy S100B disease C0795875 Biomarker 0.01 disgenet
Chromosome 21 monosomy PFKL disease C0795875 Biomarker 0.01 disgenet
Chromosome 21 monosomy CDH5 disease C0795875 Biomarker 0.01 disgenet
Chromosome 21 monosomy BACH1 disease C0795875 GeneticVariation 0.01 disgenet
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