Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Oliver-McFarlane syndrome PNPLA6 disease C1848745 CausalMutation 0.72 orphanet , disgenet
Oliver-McFarlane syndrome PNPLA6 disease C1848745 Biomarker 0.72 orphanet , disgenet
Oliver-McFarlane syndrome PNPLA6 disease C1848745 GermlineCausalMutation 0.72 orphanet , disgenet
Oliver-McFarlane syndrome PNPLA6 disease C1848745 GeneticVariation 0.72 orphanet , disgenet
Oliver-McFarlane syndrome PNPLA6 disease C1848745 AlteredExpression 0.72 orphanet , disgenet
Oliver-McFarlane syndrome HSP90B2P disease C1848745 GeneticVariation 0.01 disgenet
Oliver-McFarlane syndrome NT5E disease C1848745 AlteredExpression 0.01 disgenet
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