Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hemoglobinopathy HBB group C0019045 GeneticVariation 0.5 orphanet , disgenet
Hemoglobinopathy HBB group C0019045 CausalMutation 0.5 orphanet , disgenet
Hemoglobinopathy HBB group C0019045 Biomarker 0.5 orphanet , disgenet
Hemoglobinopathy HBG2 group C0019045 GeneticVariation 0.1 orphanet , disgenet
Hemoglobinopathy HBG2 group C0019045 Biomarker 0.1 orphanet , disgenet
Hemoglobinopathy HBA1 group C0019045 Biomarker 0.1 disgenet
Hemoglobinopathy HBA1 group C0019045 GeneticVariation 0.1 disgenet
Hemoglobinopathy HBG1 group C0019045 GeneticVariation 0.1 disgenet
Hemoglobinopathy HBG1 group C0019045 AlteredExpression 0.1 disgenet
Hemoglobinopathy HBG1 group C0019045 Biomarker 0.1 disgenet
Hemoglobinopathy HBG2 group C0019045 AlteredExpression 0.1 orphanet , disgenet
Hemoglobinopathy HBA2 group C0019045 Biomarker 0.1 disgenet
Hemoglobinopathy HBA2 group C0019045 GeneticVariation 0.1 disgenet
Hemoglobinopathy HBA2 group C0019045 AlteredExpression 0.1 disgenet
Hemoglobinopathy KLF1 group C0019045 AlteredExpression 0.08 disgenet
Hemoglobinopathy KLF1 group C0019045 GeneticVariation 0.08 disgenet
Hemoglobinopathy KLF1 group C0019045 Biomarker 0.08 disgenet
Hemoglobinopathy EPO group C0019045 Biomarker 0.04 disgenet
Hemoglobinopathy EPO group C0019045 GeneticVariation 0.04 disgenet
Hemoglobinopathy HBD group C0019045 GeneticVariation 0.03 disgenet
Hemoglobinopathy CD19 group C0019045 Biomarker 0.02 disgenet
Hemoglobinopathy VEGFA group C0019045 Biomarker 0.02 disgenet
Hemoglobinopathy VEGFA group C0019045 AlteredExpression 0.02 disgenet
Hemoglobinopathy CD19 group C0019045 GeneticVariation 0.02 disgenet
Hemoglobinopathy CSF3 group C0019045 Biomarker 0.02 disgenet
Hemoglobinopathy HP group C0019045 Biomarker 0.02 disgenet
Hemoglobinopathy FUT1 group C0019045 GeneticVariation 0.02 disgenet
Hemoglobinopathy G6PD group C0019045 Biomarker 0.02 disgenet
Hemoglobinopathy BCL11A group C0019045 AlteredExpression 0.02 disgenet
Hemoglobinopathy UGT1A1 group C0019045 GeneticVariation 0.02 disgenet
Hemoglobinopathy BCL11A group C0019045 Biomarker 0.02 disgenet
Hemoglobinopathy TRBV20OR9-2 group C0019045 Biomarker 0.02 disgenet
Hemoglobinopathy HAMP group C0019045 Biomarker 0.02 disgenet
Hemoglobinopathy EIF2AK1 group C0019045 Biomarker 0.02 disgenet
Hemoglobinopathy HFE group C0019045 GeneticVariation 0.01 disgenet
Hemoglobinopathy H3P40 group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy GYPA group C0019045 GeneticVariation 0.01 disgenet
Hemoglobinopathy HBFQTL2 group C0019045 GeneticVariation 0.01 disgenet
Hemoglobinopathy SEPTIN9 group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy ALAS2 group C0019045 GeneticVariation 0.01 disgenet
Hemoglobinopathy RN7SL263P group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy SEA group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy HBZ group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy EVA1C group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy NFKB1 group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy ARHGEF2 group C0019045 GeneticVariation 0.01 disgenet
Hemoglobinopathy IL9 group C0019045 GeneticVariation 0.01 disgenet
Hemoglobinopathy IFNA1 group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy GSTA1 group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy FLNA group C0019045 GeneticVariation 0.01 disgenet
Hemoglobinopathy SCD group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy H3P28 group C0019045 GeneticVariation 0.01 disgenet
Hemoglobinopathy SCT group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy TP53 group C0019045 AlteredExpression 0.01 disgenet
Hemoglobinopathy STAT3 group C0019045 AlteredExpression 0.01 disgenet
Hemoglobinopathy GSTM1 group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy ABO group C0019045 GeneticVariation 0.01 disgenet
Hemoglobinopathy GSR group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy ANXA1 group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy IFNA13 group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy SMARCB1 group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy GYPB group C0019045 GeneticVariation 0.01 disgenet
Hemoglobinopathy GYPE group C0019045 GeneticVariation 0.01 disgenet
Hemoglobinopathy ITGA2B group C0019045 GeneticVariation 0.01 disgenet
Hemoglobinopathy PRMT5 group C0019045 AlteredExpression 0.01 disgenet
Hemoglobinopathy RHBDF1 group C0019045 GeneticVariation 0.01 disgenet
Hemoglobinopathy TP63 group C0019045 GeneticVariation 0.01 disgenet
Hemoglobinopathy CD40 group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy VWF group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy PDR group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy HUNK group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy ABCC6 group C0019045 GeneticVariation 0.01 disgenet
Hemoglobinopathy TGFB1 group C0019045 AlteredExpression 0.01 disgenet
Hemoglobinopathy INSRR group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy RPSA group C0019045 GeneticVariation 0.01 disgenet
Hemoglobinopathy RABEPK group C0019045 GeneticVariation 0.01 disgenet
Hemoglobinopathy PGF group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy ARMH1 group C0019045 GeneticVariation 0.01 disgenet
Hemoglobinopathy ARHGEF7 group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy PAX3 group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy PAEP group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy PSMD7 group C0019045 GeneticVariation 0.01 disgenet
Hemoglobinopathy AADAC group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy CDR3 group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy EBNA1BP2 group C0019045 GeneticVariation 0.01 disgenet
Hemoglobinopathy SLC4A1 group C0019045 GeneticVariation 0.01 disgenet
Hemoglobinopathy FBXW4 group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy MAPK1 group C0019045 GeneticVariation 0.01 disgenet
Hemoglobinopathy VHL group C0019045 GeneticVariation 0.01 disgenet
Hemoglobinopathy NT5E group C0019045 GeneticVariation 0.01 disgenet
Hemoglobinopathy AMH group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy CD34 group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy LANCL1 group C0019045 GeneticVariation 0.01 disgenet
Hemoglobinopathy KIDINS220 group C0019045 Biomarker 0.01 disgenet
Hemoglobinopathy ASCC1 group C0019045 Biomarker 0.01 disgenet
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