Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Phenylketonuria, Maternal PAH disease C0085547 AlteredExpression 0.59 orphanet , disgenet
Phenylketonuria, Maternal PAH disease C0085547 GeneticVariation 0.59 orphanet , disgenet
Phenylketonuria, Maternal PAH disease C0085547 Biomarker 0.59 orphanet , disgenet
Phenylketonuria, Maternal PAH disease C0085547 GermlineCausalMutation 0.59 orphanet , disgenet
Phenylketonuria, Maternal NEFH disease C0085547 Biomarker 0.2 disgenet
Phenylketonuria, Maternal HNF1A disease C0085547 Biomarker 0.2 disgenet
Phenylketonuria, Maternal PSPH disease C0085547 Biomarker 0.2 disgenet
Phenylketonuria, Maternal CAT disease C0085547 Biomarker 0.2 disgenet
Phenylketonuria, Maternal G6PD disease C0085547 Biomarker 0.2 disgenet
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