Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hypophosphatasia ALPL disease C0020630 Biomarker 0.7 orphanet , disgenet
Hypophosphatasia ALPL disease C0020630 GeneticVariation 0.7 orphanet , disgenet
Hypophosphatasia ALPL disease C0020630 AlteredExpression 0.7 orphanet , disgenet
Hypophosphatasia ALPL disease C0020630 CausalMutation 0.7 orphanet , disgenet
Hypophosphatasia P2RX7 disease C0020630 Biomarker 0.3 disgenet
Hypophosphatasia ATRNL1 disease C0020630 Biomarker 0.1 disgenet
Hypophosphatasia ALPP disease C0020630 AlteredExpression 0.1 disgenet
Hypophosphatasia CCL27 disease C0020630 GeneticVariation 0.1 disgenet
Hypophosphatasia SLPI disease C0020630 AlteredExpression 0.1 disgenet
Hypophosphatasia CCL27 disease C0020630 AlteredExpression 0.1 disgenet
Hypophosphatasia ASRGL1 disease C0020630 AlteredExpression 0.1 disgenet
Hypophosphatasia ASRGL1 disease C0020630 Biomarker 0.1 disgenet
Hypophosphatasia ALPP disease C0020630 GeneticVariation 0.1 disgenet
Hypophosphatasia ATRNL1 disease C0020630 AlteredExpression 0.1 disgenet
Hypophosphatasia SLPI disease C0020630 Biomarker 0.1 disgenet
Hypophosphatasia ALPP disease C0020630 Biomarker 0.1 disgenet
Hypophosphatasia ASRGL1 disease C0020630 GeneticVariation 0.1 disgenet
Hypophosphatasia CCL27 disease C0020630 Biomarker 0.1 disgenet
Hypophosphatasia ATRNL1 disease C0020630 GeneticVariation 0.1 disgenet
Hypophosphatasia PDLIM3 disease C0020630 GeneticVariation 0.1 disgenet
Hypophosphatasia ATHS disease C0020630 Biomarker 0.1 disgenet
Hypophosphatasia PDLIM3 disease C0020630 AlteredExpression 0.1 disgenet
Hypophosphatasia NAT10 disease C0020630 Biomarker 0.1 disgenet
Hypophosphatasia PDLIM3 disease C0020630 Biomarker 0.1 disgenet
Hypophosphatasia NAT10 disease C0020630 GeneticVariation 0.1 disgenet
Hypophosphatasia ATHS disease C0020630 GeneticVariation 0.1 disgenet
Hypophosphatasia NAT10 disease C0020630 AlteredExpression 0.1 disgenet
Hypophosphatasia ATHS disease C0020630 AlteredExpression 0.1 disgenet
Hypophosphatasia SLPI disease C0020630 GeneticVariation 0.1 disgenet
Hypophosphatasia PRDX5 disease C0020630 AlteredExpression 0.02 disgenet
Hypophosphatasia PTHLH disease C0020630 AlteredExpression 0.02 disgenet
Hypophosphatasia PDXP disease C0020630 AlteredExpression 0.02 disgenet
Hypophosphatasia PLP1 disease C0020630 AlteredExpression 0.02 disgenet
Hypophosphatasia MYBPC1 disease C0020630 GeneticVariation 0.01 disgenet
Hypophosphatasia ALDH7A1 disease C0020630 Biomarker 0.01 disgenet
Hypophosphatasia RUNX2 disease C0020630 GeneticVariation 0.01 disgenet
Hypophosphatasia DLX3 disease C0020630 GeneticVariation 0.01 disgenet
Hypophosphatasia FGFR3 disease C0020630 GeneticVariation 0.01 disgenet
Hypophosphatasia PLPBP disease C0020630 Biomarker 0.01 disgenet
Hypophosphatasia LRP6 disease C0020630 Biomarker 0.01 disgenet
Hypophosphatasia CACNA1F disease C0020630 Biomarker 0.01 disgenet
Hypophosphatasia CP disease C0020630 Biomarker 0.01 disgenet
Hypophosphatasia TNFSF11 disease C0020630 Biomarker 0.01 disgenet
Hypophosphatasia BGLAP disease C0020630 Biomarker 0.01 disgenet
Hypophosphatasia SFTPB disease C0020630 AlteredExpression 0.01 disgenet
Hypophosphatasia PIGT disease C0020630 GeneticVariation 0.01 orphanet , disgenet
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