Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Aspartylglucosaminuria AGA phenotype C0268225 GermlineCausalMutation 1 orphanet , disgenet
Aspartylglucosaminuria AGA phenotype C0268225 GeneticVariation 1 orphanet , disgenet
Aspartylglucosaminuria AGA phenotype C0268225 CausalMutation 1 orphanet , disgenet
Aspartylglucosaminuria AGA phenotype C0268225 AlteredExpression 1 orphanet , disgenet
Aspartylglucosaminuria AGA phenotype C0268225 Biomarker 1 orphanet , disgenet
Aspartylglucosaminuria FLNA phenotype C0268225 Biomarker 0.01 disgenet
Aspartylglucosaminuria GYPE phenotype C0268225 Biomarker 0.01 disgenet
Aspartylglucosaminuria AVP phenotype C0268225 Biomarker 0.01 disgenet
Aspartylglucosaminuria GYPB phenotype C0268225 Biomarker 0.01 disgenet
Aspartylglucosaminuria SMARCA1 phenotype C0268225 Biomarker 0.01 disgenet
Aspartylglucosaminuria EGF phenotype C0268225 GeneticVariation 0.01 disgenet
Aspartylglucosaminuria FN1 phenotype C0268225 AlteredExpression 0.01 disgenet
Aspartylglucosaminuria GYPA phenotype C0268225 Biomarker 0.01 disgenet
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