Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Galactosemias GALT disease C0016952 Biomarker 0.8 disgenet
Galactosemias GALT disease C0016952 GeneticVariation 0.8 disgenet
Galactosemias GALT disease C0016952 AlteredExpression 0.8 disgenet
Galactosemias GALE disease C0016952 GeneticVariation 0.4 disgenet
Galactosemias GALK1 disease C0016952 AlteredExpression 0.4 disgenet
Galactosemias GALK1 disease C0016952 Biomarker 0.4 disgenet
Galactosemias GALE disease C0016952 Biomarker 0.4 disgenet
Galactosemias GALK1 disease C0016952 GeneticVariation 0.4 disgenet
Galactosemias DDIT3 disease C0016952 Biomarker 0.2 disgenet
Galactosemias CRYAA disease C0016952 Biomarker 0.2 disgenet
Galactosemias AKR1B1 disease C0016952 Biomarker 0.2 disgenet
Galactosemias GAL disease C0016952 Biomarker 0.05 disgenet
Galactosemias LGALS1 disease C0016952 AlteredExpression 0.05 disgenet
Galactosemias GAL disease C0016952 AlteredExpression 0.05 disgenet
Galactosemias LGALS1 disease C0016952 GeneticVariation 0.05 disgenet
Galactosemias LGALS1 disease C0016952 Biomarker 0.05 disgenet
Galactosemias GAL disease C0016952 GeneticVariation 0.05 disgenet
Galactosemias SLC2A2 disease C0016952 GeneticVariation 0.03 disgenet
Galactosemias PAH disease C0016952 GeneticVariation 0.02 disgenet
Galactosemias GALM disease C0016952 GeneticVariation 0.02 disgenet
Galactosemias PAH disease C0016952 Biomarker 0.02 disgenet
Galactosemias MAP1B disease C0016952 Biomarker 0.01 disgenet
Galactosemias IL11 disease C0016952 Biomarker 0.01 disgenet
Galactosemias RN7SL263P disease C0016952 AlteredExpression 0.01 disgenet
Galactosemias BEST1 disease C0016952 Biomarker 0.01 disgenet
Galactosemias MGAT1 disease C0016952 AlteredExpression 0.01 disgenet
Galactosemias CASP3 disease C0016952 AlteredExpression 0.01 disgenet
Galactosemias CYP51A1 disease C0016952 GeneticVariation 0.01 disgenet
Galactosemias OTC disease C0016952 Biomarker 0.01 disgenet
Galactosemias DMD disease C0016952 Biomarker 0.01 disgenet
Galactosemias ALG9 disease C0016952 AlteredExpression 0.01 disgenet
Galactosemias LGALS7 disease C0016952 Biomarker 0.01 disgenet
Galactosemias UGP2 disease C0016952 Biomarker 0.01 disgenet
Galactosemias UGT8 disease C0016952 AlteredExpression 0.01 disgenet
Galactosemias LHCGR disease C0016952 Biomarker 0.01 disgenet
Galactosemias IGF1 disease C0016952 AlteredExpression 0.01 disgenet
Galactosemias G6PD disease C0016952 Biomarker 0.01 disgenet
Galactosemias BRD2 disease C0016952 GeneticVariation 0.01 disgenet
Galactosemias LGALS7B disease C0016952 Biomarker 0.01 disgenet
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