Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Folate Malabsorption, Hereditary SLC46A1 disease C0342705 CausalMutation 0.8 orphanet , disgenet
Folate Malabsorption, Hereditary SLC46A1 disease C0342705 GeneticVariation 0.8 orphanet , disgenet
Folate Malabsorption, Hereditary SLC46A1 disease C0342705 Biomarker 0.8 orphanet , disgenet
Folate Malabsorption, Hereditary SLC46A1 disease C0342705 GermlineCausalMutation 0.8 orphanet , disgenet
Folate Malabsorption, Hereditary SARM1 disease C0342705 CausalMutation 0.1 disgenet
Folate Malabsorption, Hereditary FOLR1 disease C0342705 GeneticVariation 0.03 disgenet
Folate Malabsorption, Hereditary FOLR2 disease C0342705 GeneticVariation 0.01 disgenet
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