Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Stormorken Syndrome STIM1 disease C1861451 GeneticVariation 0.8 orphanet , disgenet
Stormorken Syndrome STIM1 disease C1861451 AlteredExpression 0.8 orphanet , disgenet
Stormorken Syndrome STIM1 disease C1861451 GermlineCausalMutation 0.8 orphanet , disgenet
Stormorken Syndrome STIM1 disease C1861451 Biomarker 0.8 orphanet , disgenet
Stormorken Syndrome STIM1 disease C1861451 CausalMutation 0.8 orphanet , disgenet
Stormorken Syndrome ORAI1 disease C1861451 GeneticVariation 0.55 orphanet , disgenet
Stormorken Syndrome ORAI1 disease C1861451 GermlineCausalMutation 0.55 orphanet , disgenet
Stormorken Syndrome ORAI1 disease C1861451 Biomarker 0.55 orphanet , disgenet
Stormorken Syndrome CASQ1 disease C1861451 Biomarker 0.01 disgenet
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