Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Patterson Stevenson syndrome LMBR1 disease C1868114 Biomarker 0.73 orphanet , disgenet
Patterson Stevenson syndrome LMBR1 disease C1868114 GermlineCausalMutation 0.73 orphanet , disgenet
Patterson Stevenson syndrome LMBR1 disease C1868114 GeneticVariation 0.73 orphanet , disgenet
Patterson Stevenson syndrome LMBR1 disease C1868114 CausalMutation 0.73 orphanet , disgenet
Patterson Stevenson syndrome SHH disease C1868114 GeneticVariation 0.51 orphanet , disgenet
Patterson Stevenson syndrome SHH disease C1868114 Biomarker 0.51 orphanet , disgenet
Patterson Stevenson syndrome SHH disease C1868114 GermlineCausalMutation 0.51 orphanet , disgenet
Patterson Stevenson syndrome ZRS disease C1868114 AlteredExpression 0.04 disgenet
Patterson Stevenson syndrome ZRS disease C1868114 Biomarker 0.04 disgenet
Patterson Stevenson syndrome ZRS disease C1868114 GeneticVariation 0.04 disgenet
Patterson Stevenson syndrome PDSS1 disease C1868114 GeneticVariation 0.01 disgenet
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