Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Tay Sachs Disease HEXA disease C0039373 GeneticVariation 1 orphanet , disgenet
Tay Sachs Disease HEXA disease C0039373 Biomarker 1 orphanet , disgenet
Tay Sachs Disease HEXA disease C0039373 CausalMutation 1 orphanet , disgenet
Tay Sachs Disease GM2A disease C0039373 CausalMutation 0.43 disgenet
Tay Sachs Disease GM2A disease C0039373 Biomarker 0.43 disgenet
Tay Sachs Disease GM2A disease C0039373 GeneticVariation 0.43 disgenet
Tay Sachs Disease OGA disease C0039373 GeneticVariation 0.1 disgenet
Tay Sachs Disease OGA disease C0039373 Biomarker 0.1 disgenet
Tay Sachs Disease OGA disease C0039373 AlteredExpression 0.1 disgenet
Tay Sachs Disease HHEX disease C0039373 Biomarker 0.06 disgenet
Tay Sachs Disease HHEX disease C0039373 GeneticVariation 0.06 disgenet
Tay Sachs Disease HEXB disease C0039373 GeneticVariation 0.06 disgenet
Tay Sachs Disease HEXB disease C0039373 Biomarker 0.06 disgenet
Tay Sachs Disease FCGRT disease C0039373 Biomarker 0.04 disgenet
Tay Sachs Disease FCGRT disease C0039373 GeneticVariation 0.04 disgenet
Tay Sachs Disease NEU3 disease C0039373 Biomarker 0.02 disgenet
Tay Sachs Disease HEXD disease C0039373 AlteredExpression 0.02 disgenet
Tay Sachs Disease UBR5 disease C0039373 GeneticVariation 0.01 disgenet
Tay Sachs Disease GRN disease C0039373 Biomarker 0.01 disgenet
Tay Sachs Disease POU5F1P4 disease C0039373 AlteredExpression 0.01 disgenet
Tay Sachs Disease GLB1 disease C0039373 Biomarker 0.01 disgenet
Tay Sachs Disease ARSA disease C0039373 Biomarker 0.01 disgenet
Tay Sachs Disease ASPA disease C0039373 GeneticVariation 0.01 disgenet
Tay Sachs Disease POU5F1 disease C0039373 AlteredExpression 0.01 disgenet
Tay Sachs Disease SEMA6A disease C0039373 Biomarker 0.01 disgenet
Tay Sachs Disease CSF2 disease C0039373 Biomarker 0.01 disgenet
Tay Sachs Disease LAMC2 disease C0039373 Biomarker 0.01 disgenet
Tay Sachs Disease NPTX1 disease C0039373 Biomarker 0.01 disgenet
Tay Sachs Disease IGFALS disease C0039373 Biomarker 0.01 disgenet
Tay Sachs Disease POU5F1P3 disease C0039373 AlteredExpression 0.01 disgenet
Tay Sachs Disease GJB2 disease C0039373 GeneticVariation 0.01 disgenet
Tay Sachs Disease FBN1 disease C0039373 GeneticVariation 0.01 disgenet
Tay Sachs Disease LAMP1 disease C0039373 AlteredExpression 0.01 disgenet
Tay Sachs Disease SOD1 disease C0039373 Biomarker 0.01 disgenet
Tay Sachs Disease GBA disease C0039373 GeneticVariation 0.01 disgenet
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