Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Kaufman McKusick syndrome MKKS disease C0948368 CausalMutation 0.79 orphanet , disgenet
Kaufman McKusick syndrome MKKS disease C0948368 Biomarker 0.79 orphanet , disgenet
Kaufman McKusick syndrome MKKS disease C0948368 GeneticVariation 0.79 orphanet , disgenet
Kaufman McKusick syndrome JAG1 disease C0948368 Biomarker 0.01 disgenet
Kaufman McKusick syndrome STUB1 disease C0948368 Biomarker 0.01 disgenet
Kaufman McKusick syndrome LEPR disease C0948368 Biomarker 0.01 disgenet
Kaufman McKusick syndrome ADRB2 disease C0948368 GeneticVariation 0.01 disgenet
Kaufman McKusick syndrome MKS1 disease C0948368 GeneticVariation 0.01 disgenet
Kaufman McKusick syndrome ST13 disease C0948368 Biomarker 0.01 disgenet
Kaufman McKusick syndrome HSP90AA1 disease C0948368 Biomarker 0.01 disgenet
Kaufman McKusick syndrome MC5R disease C0948368 GeneticVariation 0.01 disgenet
Kaufman McKusick syndrome BBS2 disease C0948368 GeneticVariation 0.01 disgenet
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