Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Amish Infantile Epilepsy Syndrome ST3GAL5 disease C1836824 GeneticVariation 0.72 orphanet , disgenet
Amish Infantile Epilepsy Syndrome ST3GAL5 disease C1836824 Biomarker 0.72 orphanet , disgenet
Amish Infantile Epilepsy Syndrome ST3GAL5 disease C1836824 CausalMutation 0.72 orphanet , disgenet
Amish Infantile Epilepsy Syndrome ST3GAL5 disease C1836824 GermlineCausalMutation 0.72 orphanet , disgenet
Amish Infantile Epilepsy Syndrome ATXN2 disease C1836824 GeneticVariation 0.1 disgenet
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