Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Splenic Hypoplasia RPSA disease C0685889 CausalMutation 0.74 orphanet , disgenet
Splenic Hypoplasia RPSA disease C0685889 GermlineCausalMutation 0.74 orphanet , disgenet
Splenic Hypoplasia RPSA disease C0685889 Biomarker 0.74 orphanet , disgenet
Splenic Hypoplasia RPSA disease C0685889 GeneticVariation 0.74 orphanet , disgenet
Splenic Hypoplasia NKX2-5 disease C0685889 GermlineCausalMutation 0.31 orphanet , disgenet
Splenic Hypoplasia NKX2-5 disease C0685889 GeneticVariation 0.31 orphanet , disgenet
Splenic Hypoplasia MMP9 disease C0685889 GeneticVariation 0.01 disgenet
Splenic Hypoplasia MIR499A disease C0685889 Biomarker 0.01 disgenet
Splenic Hypoplasia MTHFR disease C0685889 GeneticVariation 0.01 disgenet
Splenic Hypoplasia MIRLET7B disease C0685889 Biomarker 0.01 disgenet
Splenic Hypoplasia ICAM1 disease C0685889 GeneticVariation 0.01 disgenet
Splenic Hypoplasia CCL3 disease C0685889 GeneticVariation 0.01 disgenet
Splenic Hypoplasia RNF213 disease C0685889 GeneticVariation 0.01 disgenet
Splenic Hypoplasia CRP disease C0685889 Biomarker 0.01 disgenet
Splenic Hypoplasia CCL2 disease C0685889 GeneticVariation 0.01 disgenet
Splenic Hypoplasia SELE disease C0685889 GeneticVariation 0.01 disgenet
Splenic Hypoplasia CDS1 disease C0685889 Biomarker 0.01 disgenet
Splenic Hypoplasia RPS19 disease C0685889 GeneticVariation 0.01 disgenet
Splenic Hypoplasia APOA1 disease C0685889 AlteredExpression 0.01 disgenet
Splenic Hypoplasia ADIPOQ disease C0685889 Biomarker 0.01 disgenet
Splenic Hypoplasia MMP3 disease C0685889 GeneticVariation 0.01 disgenet
Splenic Hypoplasia IL1B disease C0685889 GeneticVariation 0.01 disgenet
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