Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Tay Sachs Disease, AB Variant GM2A disease C0268275 CausalMutation 0.92 orphanet , disgenet
Tay Sachs Disease, AB Variant GM2A disease C0268275 GermlineCausalMutation 0.92 orphanet , disgenet
Tay Sachs Disease, AB Variant GM2A disease C0268275 Biomarker 0.92 orphanet , disgenet
Tay Sachs Disease, AB Variant GM2A disease C0268275 GeneticVariation 0.92 orphanet , disgenet
Tay Sachs Disease, AB Variant HEXA disease C0268275 GeneticVariation 0.01 disgenet
Tay Sachs Disease, AB Variant OGA disease C0268275 GeneticVariation 0.01 disgenet
Tay Sachs Disease, AB Variant HEXB disease C0268275 GeneticVariation 0.01 disgenet
Tay Sachs Disease, AB Variant GM2AP1 disease C0268275 GeneticVariation 0.01 disgenet
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