Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
WAGR Syndrome WT1 disease C0206115 ChromosomalRearrangement 0.8 orphanet , disgenet
WAGR Syndrome PAX6 disease C0206115 ChromosomalRearrangement 0.8 orphanet , disgenet
WAGR Syndrome WT1 disease C0206115 GeneticVariation 0.8 orphanet , disgenet
WAGR Syndrome WT1 disease C0206115 AlteredExpression 0.8 orphanet , disgenet
WAGR Syndrome PAX6 disease C0206115 Biomarker 0.8 orphanet , disgenet
WAGR Syndrome PAX6 disease C0206115 AlteredExpression 0.8 orphanet , disgenet
WAGR Syndrome PAX6 disease C0206115 GeneticVariation 0.8 orphanet , disgenet
WAGR Syndrome WT1 disease C0206115 CausalMutation 0.8 orphanet , disgenet
WAGR Syndrome PAX6 disease C0206115 CausalMutation 0.8 orphanet , disgenet
WAGR Syndrome WT1 disease C0206115 Biomarker 0.8 orphanet , disgenet
WAGR Syndrome BDNF disease C0206115 GeneticVariation 0.37 orphanet , disgenet
WAGR Syndrome BDNF disease C0206115 Biomarker 0.37 orphanet , disgenet
WAGR Syndrome BDNF disease C0206115 GermlineModifyingMutation 0.37 orphanet , disgenet
WAGR Syndrome BDNF disease C0206115 AlteredExpression 0.37 orphanet , disgenet
WAGR Syndrome ELP4 disease C0206115 CausalMutation 0.11 disgenet
WAGR Syndrome ELP4 disease C0206115 GeneticVariation 0.11 disgenet
WAGR Syndrome DEL11P13 disease C0206115 Biomarker 0.04 disgenet
WAGR Syndrome DEL11P13 disease C0206115 GeneticVariation 0.04 disgenet
WAGR Syndrome PRRG4 disease C0206115 GeneticVariation 0.03 disgenet
WAGR Syndrome PRRG4 disease C0206115 Biomarker 0.03 disgenet
WAGR Syndrome CAT disease C0206115 GeneticVariation 0.02 disgenet
WAGR Syndrome MPPED2 disease C0206115 Biomarker 0.02 disgenet
WAGR Syndrome CAT disease C0206115 Biomarker 0.02 disgenet
WAGR Syndrome HTC2 disease C0206115 Biomarker 0.02 disgenet
WAGR Syndrome LMO2 disease C0206115 Biomarker 0.01 disgenet
WAGR Syndrome LUZP2 disease C0206115 Biomarker 0.01 disgenet
WAGR Syndrome HRAS disease C0206115 Biomarker 0.01 disgenet
WAGR Syndrome LGR4 disease C0206115 AlteredExpression 0.01 disgenet
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