Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hypophosphatemic Rickets, Autosomal Dominant FGF23 disease C0342642 Biomarker 1 orphanet , disgenet
Hypophosphatemic Rickets, Autosomal Dominant FGF23 disease C0342642 AlteredExpression 1 orphanet , disgenet
Hypophosphatemic Rickets, Autosomal Dominant FGF23 disease C0342642 GeneticVariation 1 orphanet , disgenet
Hypophosphatemic Rickets, Autosomal Dominant FGF23 disease C0342642 CausalMutation 1 orphanet , disgenet
Hypophosphatemic Rickets, Autosomal Dominant FGF23 disease C0342642 GermlineCausalMutation 1 orphanet , disgenet
Hypophosphatemic Rickets, Autosomal Dominant PTH disease C0342642 GeneticVariation 0.02 disgenet
Hypophosphatemic Rickets, Autosomal Dominant PTH disease C0342642 AlteredExpression 0.02 disgenet
Hypophosphatemic Rickets, Autosomal Dominant PHEX disease C0342642 GeneticVariation 0.02 disgenet
Hypophosphatemic Rickets, Autosomal Dominant SGK3 disease C0342642 GeneticVariation 0.01 disgenet
Hypophosphatemic Rickets, Autosomal Dominant SLC34A1 disease C0342642 GeneticVariation 0.01 disgenet
Hypophosphatemic Rickets, Autosomal Dominant DKK1 disease C0342642 AlteredExpression 0.01 disgenet
Hypophosphatemic Rickets, Autosomal Dominant MEPE disease C0342642 Biomarker 0.01 disgenet
Hypophosphatemic Rickets, Autosomal Dominant CTNNB1 disease C0342642 Biomarker 0.01 disgenet
Hypophosphatemic Rickets, Autosomal Dominant ENPP1 disease C0342642 Biomarker 0.01 disgenet
Hypophosphatemic Rickets, Autosomal Dominant KLB disease C0342642 Biomarker 0.01 disgenet
Hypophosphatemic Rickets, Autosomal Dominant GALNT8 disease C0342642 Biomarker 0.01 disgenet
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