Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Cri-du-Chat Syndrome CTNND2 disease C0010314 AlteredExpression 0.35 disgenet
Cri-du-Chat Syndrome CTNND2 disease C0010314 GeneticVariation 0.35 disgenet
Cri-du-Chat Syndrome CTNND2 disease C0010314 Biomarker 0.35 disgenet
Cri-du-Chat Syndrome CTNND2 disease C0010314 ChromosomalRearrangement 0.35 disgenet
Cri-du-Chat Syndrome TERT disease C0010314 Biomarker 0.34 disgenet
Cri-du-Chat Syndrome TERT disease C0010314 AlteredExpression 0.34 disgenet
Cri-du-Chat Syndrome TERT disease C0010314 GeneticVariation 0.34 disgenet
Cri-du-Chat Syndrome SEMA5A disease C0010314 GeneticVariation 0.31 disgenet
Cri-du-Chat Syndrome TRPV6 disease C0010314 GeneticVariation 0.03 disgenet
Cri-du-Chat Syndrome EGR1 disease C0010314 Biomarker 0.01 disgenet
Cri-du-Chat Syndrome HTC2 disease C0010314 Biomarker 0.01 disgenet
Cri-du-Chat Syndrome IL1RL1 disease C0010314 GeneticVariation 0.01 disgenet
Cri-du-Chat Syndrome DNAH5 disease C0010314 GeneticVariation 0.01 disgenet
Cri-du-Chat Syndrome SLC6A3 disease C0010314 Biomarker 0.01 disgenet
Cri-du-Chat Syndrome SMUG1 disease C0010314 GeneticVariation 0.01 disgenet
Cri-du-Chat Syndrome MRPL36 disease C0010314 Biomarker 0.01 disgenet
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