Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Glutamate formiminotransferase deficiency FTCD disease C0268609 GeneticVariation 0.73 orphanet , disgenet
Glutamate formiminotransferase deficiency FTCD disease C0268609 Biomarker 0.73 orphanet , disgenet
Glutamate formiminotransferase deficiency FTCD disease C0268609 CausalMutation 0.73 orphanet , disgenet
Glutamate formiminotransferase deficiency FTCD disease C0268609 GermlineCausalMutation 0.73 orphanet , disgenet
Glutamate formiminotransferase deficiency SLC46A1 disease C0268609 GeneticVariation 0.01 disgenet
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