Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Vitamin D Hydroxylation-Deficient Rickets, Type 1B CYP2R1 disease C1838657 CausalMutation 0.73 disgenet
Vitamin D Hydroxylation-Deficient Rickets, Type 1B CYP2R1 disease C1838657 GeneticVariation 0.73 disgenet
Vitamin D Hydroxylation-Deficient Rickets, Type 1B CYP2R1 disease C1838657 Biomarker 0.73 disgenet
Vitamin D Hydroxylation-Deficient Rickets, Type 1B CYP27B1 disease C1838657 GeneticVariation 0.01 disgenet
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