Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Amino Acid Metabolism, Inborn Errors SLC7A7 group C0002514 Biomarker 0.3 disgenet
Amino Acid Metabolism, Inborn Errors GAMT group C0002514 Biomarker 0.3 disgenet
Amino Acid Metabolism, Inborn Errors PSPH group C0002514 Biomarker 0.3 disgenet
Amino Acid Metabolism, Inborn Errors XPC group C0002514 Biomarker 0.3 disgenet
Amino Acid Metabolism, Inborn Errors AHCY group C0002514 Biomarker 0.3 disgenet
Amino Acid Metabolism, Inborn Errors D2HGDH group C0002514 Biomarker 0.3 disgenet
Amino Acid Metabolism, Inborn Errors EIF2AK4 group C0002514 Biomarker 0.3 disgenet
Amino Acid Metabolism, Inborn Errors MAT1A group C0002514 Biomarker 0.3 disgenet
Amino Acid Metabolism, Inborn Errors ARG1 group C0002514 Biomarker 0.3 disgenet
Amino Acid Metabolism, Inborn Errors PRODH group C0002514 Biomarker 0.3 disgenet
Amino Acid Metabolism, Inborn Errors GCLC group C0002514 Biomarker 0.3 disgenet
Amino Acid Metabolism, Inborn Errors SECISBP2 group C0002514 Biomarker 0.3 disgenet
Amino Acid Metabolism, Inborn Errors ALDH6A1 group C0002514 Biomarker 0.3 disgenet
Amino Acid Metabolism, Inborn Errors DHTKD1 group C0002514 Biomarker 0.2 disgenet
Amino Acid Metabolism, Inborn Errors PAH group C0002514 Biomarker 0.06 disgenet
Amino Acid Metabolism, Inborn Errors PAH group C0002514 GeneticVariation 0.06 disgenet
Amino Acid Metabolism, Inborn Errors ARID4B group C0002514 Biomarker 0.02 disgenet
Amino Acid Metabolism, Inborn Errors ARID4B group C0002514 GeneticVariation 0.02 disgenet
Amino Acid Metabolism, Inborn Errors SLC6A19 group C0002514 Biomarker 0.01 disgenet
Amino Acid Metabolism, Inborn Errors OAT group C0002514 GeneticVariation 0.01 disgenet
Amino Acid Metabolism, Inborn Errors LINC01672 group C0002514 Biomarker 0.01 disgenet
Amino Acid Metabolism, Inborn Errors GLUL group C0002514 Biomarker 0.01 disgenet
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