Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Pyropoikilocytosis, Hereditary SPTA1 disease C0520739 Biomarker 0.73 disgenet
Pyropoikilocytosis, Hereditary SPTA1 disease C0520739 CausalMutation 0.73 disgenet
Pyropoikilocytosis, Hereditary SPTA1 disease C0520739 GeneticVariation 0.73 disgenet
Pyropoikilocytosis, Hereditary SPTB disease C0520739 GeneticVariation 0.11 disgenet
Pyropoikilocytosis, Hereditary SPTB disease C0520739 CausalMutation 0.11 disgenet
Pyropoikilocytosis, Hereditary ALPL disease C0520739 AlteredExpression 0.1 disgenet
Pyropoikilocytosis, Hereditary ALPL disease C0520739 Biomarker 0.1 disgenet
Pyropoikilocytosis, Hereditary ALPL disease C0520739 GeneticVariation 0.1 disgenet
Pyropoikilocytosis, Hereditary CCL27 disease C0520739 AlteredExpression 0.05 disgenet
Pyropoikilocytosis, Hereditary SLPI disease C0520739 AlteredExpression 0.05 disgenet
Pyropoikilocytosis, Hereditary SLPI disease C0520739 GeneticVariation 0.05 disgenet
Pyropoikilocytosis, Hereditary ALPP disease C0520739 GeneticVariation 0.05 disgenet
Pyropoikilocytosis, Hereditary CCL27 disease C0520739 GeneticVariation 0.05 disgenet
Pyropoikilocytosis, Hereditary CCL27 disease C0520739 Biomarker 0.05 disgenet
Pyropoikilocytosis, Hereditary NAT10 disease C0520739 AlteredExpression 0.05 disgenet
Pyropoikilocytosis, Hereditary NAT10 disease C0520739 GeneticVariation 0.05 disgenet
Pyropoikilocytosis, Hereditary ATHS disease C0520739 GeneticVariation 0.05 disgenet
Pyropoikilocytosis, Hereditary SLPI disease C0520739 Biomarker 0.05 disgenet
Pyropoikilocytosis, Hereditary NAT10 disease C0520739 Biomarker 0.05 disgenet
Pyropoikilocytosis, Hereditary ALPP disease C0520739 Biomarker 0.05 disgenet
Pyropoikilocytosis, Hereditary ATRNL1 disease C0520739 Biomarker 0.05 disgenet
Pyropoikilocytosis, Hereditary ATHS disease C0520739 Biomarker 0.05 disgenet
Pyropoikilocytosis, Hereditary ALPP disease C0520739 AlteredExpression 0.05 disgenet
Pyropoikilocytosis, Hereditary ASRGL1 disease C0520739 GeneticVariation 0.05 disgenet
Pyropoikilocytosis, Hereditary PDLIM3 disease C0520739 Biomarker 0.05 disgenet
Pyropoikilocytosis, Hereditary ATHS disease C0520739 AlteredExpression 0.05 disgenet
Pyropoikilocytosis, Hereditary ASRGL1 disease C0520739 AlteredExpression 0.05 disgenet
Pyropoikilocytosis, Hereditary PDLIM3 disease C0520739 GeneticVariation 0.05 disgenet
Pyropoikilocytosis, Hereditary ATRNL1 disease C0520739 GeneticVariation 0.05 disgenet
Pyropoikilocytosis, Hereditary ATRNL1 disease C0520739 AlteredExpression 0.05 disgenet
Pyropoikilocytosis, Hereditary PDLIM3 disease C0520739 AlteredExpression 0.05 disgenet
Pyropoikilocytosis, Hereditary ASRGL1 disease C0520739 Biomarker 0.05 disgenet
Pyropoikilocytosis, Hereditary SCN4A disease C0520739 Biomarker 0.04 disgenet
Pyropoikilocytosis, Hereditary SCN4A disease C0520739 GeneticVariation 0.04 disgenet
Pyropoikilocytosis, Hereditary COL1A1 disease C0520739 Biomarker 0.02 disgenet
Pyropoikilocytosis, Hereditary COL1A1 disease C0520739 GeneticVariation 0.02 disgenet
Pyropoikilocytosis, Hereditary CACNA1S disease C0520739 GeneticVariation 0.02 disgenet
Pyropoikilocytosis, Hereditary COL1A2 disease C0520739 Biomarker 0.02 disgenet
Pyropoikilocytosis, Hereditary COL1A2 disease C0520739 GeneticVariation 0.02 disgenet
Pyropoikilocytosis, Hereditary KRAS disease C0520739 GeneticVariation 0.02 disgenet
Pyropoikilocytosis, Hereditary SCGB3A1 disease C0520739 Biomarker 0.01 disgenet
Pyropoikilocytosis, Hereditary TLR2 disease C0520739 Biomarker 0.01 disgenet
Pyropoikilocytosis, Hereditary SOST disease C0520739 Biomarker 0.01 disgenet
Pyropoikilocytosis, Hereditary BRAF disease C0520739 GeneticVariation 0.01 disgenet
Pyropoikilocytosis, Hereditary CDKN2A disease C0520739 AlteredExpression 0.01 disgenet
Pyropoikilocytosis, Hereditary EGFR disease C0520739 GeneticVariation 0.01 disgenet
Pyropoikilocytosis, Hereditary APC disease C0520739 AlteredExpression 0.01 disgenet
Pyropoikilocytosis, Hereditary ENPP1 disease C0520739 Biomarker 0.01 disgenet
Pyropoikilocytosis, Hereditary TUBGCP3 disease C0520739 Biomarker 0.01 disgenet
Pyropoikilocytosis, Hereditary SFRP1 disease C0520739 Biomarker 0.01 disgenet
Pyropoikilocytosis, Hereditary EPB41 disease C0520739 Biomarker 0.01 disgenet
Pyropoikilocytosis, Hereditary HES1 disease C0520739 AlteredExpression 0.01 disgenet
Pyropoikilocytosis, Hereditary DMD disease C0520739 GeneticVariation 0.01 disgenet
Pyropoikilocytosis, Hereditary PANX1 disease C0520739 AlteredExpression 0.01 disgenet
Pyropoikilocytosis, Hereditary PRDX5 disease C0520739 Biomarker 0.01 disgenet
Pyropoikilocytosis, Hereditary MAPK3 disease C0520739 GeneticVariation 0.01 disgenet
Pyropoikilocytosis, Hereditary CDX2 disease C0520739 PosttranslationalModification 0.01 disgenet
Pyropoikilocytosis, Hereditary PTHLH disease C0520739 Biomarker 0.01 disgenet
Pyropoikilocytosis, Hereditary BEST1 disease C0520739 GeneticVariation 0.01 disgenet
Pyropoikilocytosis, Hereditary OTUD4 disease C0520739 Biomarker 0.01 disgenet
Pyropoikilocytosis, Hereditary H19 disease C0520739 GeneticVariation 0.01 disgenet
Pyropoikilocytosis, Hereditary SOX9 disease C0520739 Biomarker 0.01 disgenet
Pyropoikilocytosis, Hereditary PLP1 disease C0520739 Biomarker 0.01 disgenet
Pyropoikilocytosis, Hereditary PRRX1 disease C0520739 Biomarker 0.01 disgenet
Pyropoikilocytosis, Hereditary GATA4 disease C0520739 Biomarker 0.01 disgenet
Pyropoikilocytosis, Hereditary MLH1 disease C0520739 Biomarker 0.01 disgenet
Pyropoikilocytosis, Hereditary SYNE1 disease C0520739 Biomarker 0.01 disgenet
Pyropoikilocytosis, Hereditary PRDX1 disease C0520739 Biomarker 0.01 disgenet
Pyropoikilocytosis, Hereditary IH disease C0520739 GeneticVariation 0.01 disgenet
Pyropoikilocytosis, Hereditary PDXP disease C0520739 Biomarker 0.01 disgenet
Pyropoikilocytosis, Hereditary SOX17 disease C0520739 Biomarker 0.01 disgenet
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