Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hypophosphatasia, Infantile ALPL disease C0268412 GermlineCausalMutation 1 orphanet , disgenet
Hypophosphatasia, Infantile ALPL disease C0268412 CausalMutation 1 orphanet , disgenet
Hypophosphatasia, Infantile ALPL disease C0268412 GeneticVariation 1 orphanet , disgenet
Hypophosphatasia, Infantile ALPL disease C0268412 Biomarker 1 orphanet , disgenet
Hypophosphatasia, Infantile PDLIM3 disease C0268412 GeneticVariation 0.02 disgenet
Hypophosphatasia, Infantile NAT10 disease C0268412 GeneticVariation 0.02 disgenet
Hypophosphatasia, Infantile ATRNL1 disease C0268412 GeneticVariation 0.02 disgenet
Hypophosphatasia, Infantile ASRGL1 disease C0268412 GeneticVariation 0.02 disgenet
Hypophosphatasia, Infantile TMUB1 disease C0268412 GeneticVariation 0.02 disgenet
Hypophosphatasia, Infantile ATHS disease C0268412 GeneticVariation 0.02 disgenet
Hypophosphatasia, Infantile ALPP disease C0268412 GeneticVariation 0.02 disgenet
Hypophosphatasia, Infantile TMUB1 disease C0268412 Biomarker 0.02 disgenet
Hypophosphatasia, Infantile CCL27 disease C0268412 GeneticVariation 0.02 disgenet
Hypophosphatasia, Infantile SLPI disease C0268412 GeneticVariation 0.02 disgenet
Hypophosphatasia, Infantile ATAD1 disease C0268412 Biomarker 0.01 disgenet
Hypophosphatasia, Infantile CACNA1F disease C0268412 Biomarker 0.01 disgenet
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