Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Bohring syndrome ASXL1 disease C0796232 GeneticVariation 0.8 orphanet , disgenet
Bohring syndrome ASXL1 disease C0796232 GermlineCausalMutation 0.8 orphanet , disgenet
Bohring syndrome ASXL1 disease C0796232 CausalMutation 0.8 orphanet , disgenet
Bohring syndrome ASXL1 disease C0796232 Biomarker 0.8 orphanet , disgenet
Bohring syndrome KLHL7 disease C0796232 GermlineCausalMutation 0.31 disgenet
Bohring syndrome KLHL7 disease C0796232 GeneticVariation 0.31 disgenet
Bohring syndrome ASXL3 disease C0796232 GeneticVariation 0.03 disgenet
Bohring syndrome CRLF1 disease C0796232 Biomarker 0.01 disgenet
Bohring syndrome CD96 disease C0796232 GeneticVariation 0.01 disgenet
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