Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Pelger Huet Anomaly LBR disease C0030779 AlteredExpression 1 disgenet
Pelger Huet Anomaly LBR disease C0030779 CausalMutation 1 disgenet
Pelger Huet Anomaly LBR disease C0030779 Biomarker 1 disgenet
Pelger Huet Anomaly LBR disease C0030779 PosttranslationalModification 1 disgenet
Pelger Huet Anomaly LBR disease C0030779 GeneticVariation 1 disgenet
Pelger Huet Anomaly NBAS disease C0030779 Biomarker 0.05 disgenet
Pelger Huet Anomaly NBAS disease C0030779 GeneticVariation 0.05 disgenet
Pelger Huet Anomaly NR3C2 disease C0030779 Biomarker 0.05 disgenet
Pelger Huet Anomaly REN disease C0030779 Biomarker 0.04 disgenet
Pelger Huet Anomaly REN disease C0030779 GeneticVariation 0.04 disgenet
Pelger Huet Anomaly SCNN1G disease C0030779 Biomarker 0.03 disgenet
Pelger Huet Anomaly SCNN1G disease C0030779 GeneticVariation 0.03 disgenet
Pelger Huet Anomaly SCNN1B disease C0030779 GeneticVariation 0.02 disgenet
Pelger Huet Anomaly ASIC5 disease C0030779 Biomarker 0.02 disgenet
Pelger Huet Anomaly SCNN1A disease C0030779 GeneticVariation 0.02 disgenet
Pelger Huet Anomaly ASIC5 disease C0030779 GeneticVariation 0.02 disgenet
Pelger Huet Anomaly POMC disease C0030779 Biomarker 0.01 disgenet
Pelger Huet Anomaly GH1 disease C0030779 Biomarker 0.01 disgenet
Pelger Huet Anomaly IL1A disease C0030779 GeneticVariation 0.01 disgenet
Pelger Huet Anomaly SYT1 disease C0030779 Biomarker 0.01 disgenet
Pelger Huet Anomaly IL2 disease C0030779 Biomarker 0.01 disgenet
Pelger Huet Anomaly MPO disease C0030779 Biomarker 0.01 disgenet
Pelger Huet Anomaly TNF disease C0030779 Biomarker 0.01 disgenet
Pelger Huet Anomaly ALAD disease C0030779 AlteredExpression 0.01 disgenet
Pelger Huet Anomaly RELA disease C0030779 Biomarker 0.01 disgenet
Pelger Huet Anomaly HMBS disease C0030779 Biomarker 0.01 disgenet
Pelger Huet Anomaly MARS1 disease C0030779 GeneticVariation 0.01 disgenet
Pelger Huet Anomaly LMNA disease C0030779 GeneticVariation 0.01 disgenet
Pelger Huet Anomaly SELENBP1 disease C0030779 Biomarker 0.01 disgenet
Pelger Huet Anomaly WNK1 disease C0030779 Biomarker 0.01 disgenet
Pelger Huet Anomaly GORASP1 disease C0030779 Biomarker 0.01 disgenet
Pelger Huet Anomaly CA12 disease C0030779 GeneticVariation 0.01 disgenet
Pelger Huet Anomaly TP53 disease C0030779 GeneticVariation 0.01 disgenet
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