Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hyperphosphatasia with Mental Retardation PIGV disease C1855923 GermlineCausalMutation 0.74 disgenet
Hyperphosphatasia with Mental Retardation PIGV disease C1855923 Biomarker 0.74 disgenet
Hyperphosphatasia with Mental Retardation PIGV disease C1855923 GeneticVariation 0.74 disgenet
Hyperphosphatasia with Mental Retardation PIGO disease C1855923 Biomarker 0.64 disgenet
Hyperphosphatasia with Mental Retardation PIGO disease C1855923 GermlineCausalMutation 0.64 disgenet
Hyperphosphatasia with Mental Retardation PIGO disease C1855923 GeneticVariation 0.64 disgenet
Hyperphosphatasia with Mental Retardation PGAP3 disease C1855923 Biomarker 0.53 disgenet
Hyperphosphatasia with Mental Retardation PGAP3 disease C1855923 GeneticVariation 0.53 disgenet
Hyperphosphatasia with Mental Retardation PGAP3 disease C1855923 GermlineCausalMutation 0.53 disgenet
Hyperphosphatasia with Mental Retardation PIGW disease C1855923 GeneticVariation 0.51 disgenet
Hyperphosphatasia with Mental Retardation PIGW disease C1855923 GermlineCausalMutation 0.51 disgenet
Hyperphosphatasia with Mental Retardation PIGW disease C1855923 Biomarker 0.51 disgenet
Hyperphosphatasia with Mental Retardation PIGY disease C1855923 GermlineCausalMutation 0.5 disgenet
Hyperphosphatasia with Mental Retardation PIGY disease C1855923 Biomarker 0.5 disgenet
Hyperphosphatasia with Mental Retardation PGAP2 disease C1855923 GermlineCausalMutation 0.33 disgenet
Hyperphosphatasia with Mental Retardation PGAP2 disease C1855923 Biomarker 0.33 disgenet
Hyperphosphatasia with Mental Retardation PGAP2 disease C1855923 GeneticVariation 0.33 disgenet
Hyperphosphatasia with Mental Retardation PIGL disease C1855923 GermlineCausalMutation 0.3 disgenet
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