Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Maple Syrup Urine Disease DBT disease C0024776 CausalMutation 1 disgenet
Maple Syrup Urine Disease DBT disease C0024776 Biomarker 1 disgenet
Maple Syrup Urine Disease DBT disease C0024776 GeneticVariation 1 disgenet
Maple Syrup Urine Disease DBT disease C0024776 AlteredExpression 1 disgenet
Maple Syrup Urine Disease BCKDHB disease C0024776 CausalMutation 0.8 disgenet
Maple Syrup Urine Disease BCKDHB disease C0024776 AlteredExpression 0.8 disgenet
Maple Syrup Urine Disease BCKDHB disease C0024776 Biomarker 0.8 disgenet
Maple Syrup Urine Disease BCKDHA disease C0024776 CausalMutation 0.8 disgenet
Maple Syrup Urine Disease BCKDHA disease C0024776 AlteredExpression 0.8 disgenet
Maple Syrup Urine Disease BCKDHA disease C0024776 GeneticVariation 0.8 disgenet
Maple Syrup Urine Disease BCKDHB disease C0024776 GeneticVariation 0.8 disgenet
Maple Syrup Urine Disease BCKDHA disease C0024776 Biomarker 0.8 disgenet
Maple Syrup Urine Disease BCAT2 disease C0024776 Biomarker 0.52 disgenet
Maple Syrup Urine Disease PPM1K disease C0024776 Biomarker 0.52 disgenet
Maple Syrup Urine Disease PPM1K disease C0024776 GeneticVariation 0.52 disgenet
Maple Syrup Urine Disease DLD disease C0024776 GeneticVariation 0.33 disgenet
Maple Syrup Urine Disease DLD disease C0024776 Biomarker 0.33 disgenet
Maple Syrup Urine Disease ARID4B disease C0024776 AlteredExpression 0.06 disgenet
Maple Syrup Urine Disease ARID4B disease C0024776 GeneticVariation 0.06 disgenet
Maple Syrup Urine Disease ARID4B disease C0024776 Biomarker 0.06 disgenet
Maple Syrup Urine Disease BDNF disease C0024776 AlteredExpression 0.02 disgenet
Maple Syrup Urine Disease MEA1 disease C0024776 Biomarker 0.01 disgenet
Maple Syrup Urine Disease IL1B disease C0024776 AlteredExpression 0.01 disgenet
Maple Syrup Urine Disease TNS3 disease C0024776 Biomarker 0.01 disgenet
Maple Syrup Urine Disease CTSD disease C0024776 AlteredExpression 0.01 disgenet
Maple Syrup Urine Disease MECP2 disease C0024776 Biomarker 0.01 disgenet
Maple Syrup Urine Disease UMOD disease C0024776 Biomarker 0.01 disgenet
Maple Syrup Urine Disease GLI2 disease C0024776 Biomarker 0.01 disgenet
Maple Syrup Urine Disease CACNA2D2 disease C0024776 Biomarker 0.01 disgenet
Maple Syrup Urine Disease SPN disease C0024776 Biomarker 0.01 disgenet
Maple Syrup Urine Disease SERPINE1 disease C0024776 AlteredExpression 0.01 disgenet
Maple Syrup Urine Disease NME1 disease C0024776 GeneticVariation 0.01 disgenet
Maple Syrup Urine Disease NBN disease C0024776 GeneticVariation 0.01 disgenet
Maple Syrup Urine Disease MKRN3 disease C0024776 GeneticVariation 0.01 disgenet
Maple Syrup Urine Disease PAH disease C0024776 Biomarker 0.01 disgenet
Maple Syrup Urine Disease GPR4 disease C0024776 Biomarker 0.01 disgenet
Maple Syrup Urine Disease F2 disease C0024776 Biomarker 0.01 disgenet
Maple Syrup Urine Disease BCKDK NA C0024776 NA NA orphanet
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