Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hartnup Disease SLC6A19 disease C0018609 CausalMutation 1 orphanet , disgenet
Hartnup Disease SLC6A19 disease C0018609 GeneticVariation 1 orphanet , disgenet
Hartnup Disease SLC6A19 disease C0018609 Biomarker 1 orphanet , disgenet
Hartnup Disease SLC6A19 disease C0018609 GermlineCausalMutation 1 orphanet , disgenet
Hartnup Disease CLTRN disease C0018609 GeneticVariation 0.03 orphanet , disgenet
Hartnup Disease CLTRN disease C0018609 Biomarker 0.03 orphanet , disgenet
Hartnup Disease ACE2 disease C0018609 GeneticVariation 0.03 disgenet
Hartnup Disease RPS27 disease C0018609 GeneticVariation 0.02 disgenet
Hartnup Disease EGLN1 disease C0018609 Biomarker 0.02 disgenet
Hartnup Disease SLC1A5 disease C0018609 AlteredExpression 0.02 disgenet
Hartnup Disease RPS27 disease C0018609 Biomarker 0.02 disgenet
Hartnup Disease SLC1A5 disease C0018609 GeneticVariation 0.02 disgenet
Hartnup Disease PHC2 disease C0018609 Biomarker 0.02 disgenet
Hartnup Disease TTK disease C0018609 GeneticVariation 0.02 disgenet
Hartnup Disease MPEG1 disease C0018609 GeneticVariation 0.02 disgenet
Hartnup Disease MPEG1 disease C0018609 Biomarker 0.02 disgenet
Hartnup Disease TTK disease C0018609 Biomarker 0.02 disgenet
Hartnup Disease IDUA disease C0018609 Biomarker 0.02 disgenet
Hartnup Disease IDUA disease C0018609 GeneticVariation 0.02 disgenet
Hartnup Disease IGFALS disease C0018609 Biomarker 0.01 disgenet
Hartnup Disease SOD1 disease C0018609 Biomarker 0.01 disgenet
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