Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Laurence Moon Syndrome PNPLA6 disease C0023138 Biomarker 0.7 orphanet , disgenet
Laurence Moon Syndrome PNPLA6 disease C0023138 GermlineCausalMutation 0.7 orphanet , disgenet
Laurence Moon Syndrome PNPLA6 disease C0023138 GeneticVariation 0.7 orphanet , disgenet
Laurence Moon Syndrome PNPLA6 disease C0023138 CausalMutation 0.7 orphanet , disgenet
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