Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
beta-Thalassemia HBB disease C0005283 AlteredExpression 0.8 orphanet , disgenet
beta-Thalassemia HBB disease C0005283 GeneticVariation 0.8 orphanet , disgenet
beta-Thalassemia HBB disease C0005283 CausalMutation 0.8 orphanet , disgenet
beta-Thalassemia HBB disease C0005283 Biomarker 0.8 orphanet , disgenet
beta-Thalassemia HBB disease C0005283 PosttranslationalModification 0.8 orphanet , disgenet
beta-Thalassemia HBA2 disease C0005283 Biomarker 0.4 disgenet
beta-Thalassemia HAMP disease C0005283 GeneticVariation 0.4 disgenet
beta-Thalassemia HBA2 disease C0005283 AlteredExpression 0.4 disgenet
beta-Thalassemia HAMP disease C0005283 AlteredExpression 0.4 disgenet
beta-Thalassemia HBA2 disease C0005283 GeneticVariation 0.4 disgenet
beta-Thalassemia HAMP disease C0005283 Biomarker 0.4 disgenet
beta-Thalassemia TFRC disease C0005283 AlteredExpression 0.35 disgenet
beta-Thalassemia TFRC disease C0005283 GeneticVariation 0.35 disgenet
beta-Thalassemia TFRC disease C0005283 Biomarker 0.35 disgenet
beta-Thalassemia EPO disease C0005283 Therapeutic 0.34 disgenet
beta-Thalassemia EPO disease C0005283 AlteredExpression 0.34 disgenet
beta-Thalassemia EPO disease C0005283 Biomarker 0.34 disgenet
beta-Thalassemia LCN2 disease C0005283 Biomarker 0.32 disgenet
beta-Thalassemia LCN2 disease C0005283 AlteredExpression 0.32 disgenet
beta-Thalassemia TFR2 disease C0005283 AlteredExpression 0.31 disgenet
beta-Thalassemia TFR2 disease C0005283 Biomarker 0.31 disgenet
beta-Thalassemia CAD disease C0005283 Biomarker 0.3 disgenet
beta-Thalassemia HBB-LCR disease C0005283 Biomarker 0.3 disgenet
beta-Thalassemia DHODH disease C0005283 Biomarker 0.3 disgenet
beta-Thalassemia UMPS disease C0005283 Biomarker 0.3 disgenet
beta-Thalassemia CACNA1H disease C0005283 Biomarker 0.3 disgenet
beta-Thalassemia KLF1 disease C0005283 GeneticVariation 0.26 disgenet
beta-Thalassemia KLF1 disease C0005283 AlteredExpression 0.26 disgenet
beta-Thalassemia KLF1 disease C0005283 Biomarker 0.26 disgenet
beta-Thalassemia HBFQTL2 disease C0005283 Biomarker 0.1 disgenet
beta-Thalassemia HBG1 disease C0005283 Biomarker 0.1 disgenet
beta-Thalassemia BCL11A disease C0005283 AlteredExpression 0.1 disgenet
beta-Thalassemia HBFQTL2 disease C0005283 GeneticVariation 0.1 disgenet
beta-Thalassemia PMCH disease C0005283 AlteredExpression 0.1 disgenet
beta-Thalassemia HBG1 disease C0005283 PosttranslationalModification 0.1 disgenet
beta-Thalassemia PMCH disease C0005283 Biomarker 0.1 disgenet
beta-Thalassemia BCL11A disease C0005283 GeneticVariation 0.1 disgenet
beta-Thalassemia AHSP disease C0005283 GeneticVariation 0.1 disgenet
beta-Thalassemia AHSP disease C0005283 Biomarker 0.1 disgenet
beta-Thalassemia HBG1 disease C0005283 AlteredExpression 0.1 disgenet
beta-Thalassemia HBG1 disease C0005283 GeneticVariation 0.1 disgenet
beta-Thalassemia PMCH disease C0005283 GeneticVariation 0.1 disgenet
beta-Thalassemia BCL11A disease C0005283 Biomarker 0.1 disgenet
beta-Thalassemia AHSP disease C0005283 AlteredExpression 0.1 disgenet
beta-Thalassemia HBG2 disease C0005283 PosttranslationalModification 0.1 disgenet
beta-Thalassemia HBG2 disease C0005283 GeneticVariation 0.1 disgenet
beta-Thalassemia HBG2 disease C0005283 AlteredExpression 0.1 disgenet
beta-Thalassemia HBG2 disease C0005283 Biomarker 0.1 disgenet
beta-Thalassemia HBA1 disease C0005283 GeneticVariation 0.1 disgenet
beta-Thalassemia HBA1 disease C0005283 Biomarker 0.1 disgenet
beta-Thalassemia HBA1 disease C0005283 AlteredExpression 0.1 disgenet
beta-Thalassemia HBD disease C0005283 AlteredExpression 0.09 orphanet , disgenet
beta-Thalassemia HBD disease C0005283 GeneticVariation 0.09 orphanet , disgenet
beta-Thalassemia G6PD disease C0005283 GeneticVariation 0.07 disgenet
beta-Thalassemia G6PD disease C0005283 Biomarker 0.07 disgenet
beta-Thalassemia HFE disease C0005283 GeneticVariation 0.06 disgenet
beta-Thalassemia ITGA2B disease C0005283 GeneticVariation 0.06 disgenet
beta-Thalassemia MYB disease C0005283 AlteredExpression 0.05 disgenet
beta-Thalassemia RN7SL263P disease C0005283 Biomarker 0.05 disgenet
beta-Thalassemia RN7SL263P disease C0005283 GeneticVariation 0.05 disgenet
beta-Thalassemia SEA disease C0005283 Biomarker 0.05 disgenet
beta-Thalassemia MYB disease C0005283 GeneticVariation 0.05 disgenet
beta-Thalassemia SEA disease C0005283 GeneticVariation 0.05 disgenet
beta-Thalassemia UGT1A1 disease C0005283 GeneticVariation 0.04 disgenet
beta-Thalassemia CD34 disease C0005283 Biomarker 0.04 disgenet
beta-Thalassemia CAT disease C0005283 GeneticVariation 0.03 disgenet
beta-Thalassemia SCD disease C0005283 Biomarker 0.03 disgenet
beta-Thalassemia SCD disease C0005283 GeneticVariation 0.03 disgenet
beta-Thalassemia ENTPD1 disease C0005283 GeneticVariation 0.03 disgenet
beta-Thalassemia PON1 disease C0005283 AlteredExpression 0.03 disgenet
beta-Thalassemia CAT disease C0005283 AlteredExpression 0.03 disgenet
beta-Thalassemia UGT1A8 disease C0005283 GeneticVariation 0.03 disgenet
beta-Thalassemia KIDINS220 disease C0005283 Biomarker 0.03 disgenet
beta-Thalassemia KIDINS220 disease C0005283 GeneticVariation 0.03 disgenet
beta-Thalassemia PON1 disease C0005283 Biomarker 0.03 disgenet
beta-Thalassemia UGT1A7 disease C0005283 GeneticVariation 0.03 disgenet
beta-Thalassemia UGT1A6 disease C0005283 GeneticVariation 0.03 disgenet
beta-Thalassemia SOX6 disease C0005283 Biomarker 0.03 disgenet
beta-Thalassemia UGT1A10 disease C0005283 GeneticVariation 0.03 disgenet
beta-Thalassemia SOX6 disease C0005283 AlteredExpression 0.03 disgenet
beta-Thalassemia UGT1A4 disease C0005283 GeneticVariation 0.03 disgenet
beta-Thalassemia GSTK1 disease C0005283 GeneticVariation 0.02 disgenet
beta-Thalassemia GPT disease C0005283 Biomarker 0.02 disgenet
beta-Thalassemia PSMB6 disease C0005283 GeneticVariation 0.02 disgenet
beta-Thalassemia PSMB6 disease C0005283 Biomarker 0.02 disgenet
beta-Thalassemia DLL1 disease C0005283 GeneticVariation 0.02 disgenet
beta-Thalassemia MIR210 disease C0005283 Biomarker 0.02 disgenet
beta-Thalassemia SPRR2A disease C0005283 Biomarker 0.02 disgenet
beta-Thalassemia GSTM1 disease C0005283 GeneticVariation 0.02 disgenet
beta-Thalassemia SPRR2A disease C0005283 GeneticVariation 0.02 disgenet
beta-Thalassemia SELP disease C0005283 AlteredExpression 0.02 disgenet
beta-Thalassemia IFNL3 disease C0005283 GeneticVariation 0.02 disgenet
beta-Thalassemia HPGDS disease C0005283 GeneticVariation 0.02 disgenet
beta-Thalassemia GPT disease C0005283 GeneticVariation 0.02 disgenet
beta-Thalassemia HBD disease C0005283 GeneticVariation 0.02 orphanet , disgenet
beta-Thalassemia DLL1 disease C0005283 Biomarker 0.02 disgenet
beta-Thalassemia SLCO6A1 disease C0005283 GeneticVariation 0.02 disgenet
beta-Thalassemia HBS1L disease C0005283 AlteredExpression 0.02 disgenet
beta-Thalassemia GDF15 disease C0005283 AlteredExpression 0.02 disgenet
beta-Thalassemia CHIT1 disease C0005283 Biomarker 0.02 disgenet
beta-Thalassemia APOE disease C0005283 GeneticVariation 0.02 disgenet
beta-Thalassemia YY1 disease C0005283 GeneticVariation 0.02 disgenet
beta-Thalassemia CSF3 disease C0005283 Biomarker 0.02 disgenet
beta-Thalassemia YY1 disease C0005283 Biomarker 0.02 disgenet
beta-Thalassemia GSTM2 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia STK3 disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia IGF2 disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia SFMBT2 disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia FXN disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia IGF1 disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia TERT disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia ABCC6 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia UBL4A disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia PSMA5 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia MIR15A disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia TNFRSF11B disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia SLC25A20 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia ZNF471 disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia LARP1B disease C0005283 PosttranslationalModification 0.01 disgenet
beta-Thalassemia ELANE disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia BRIP1 disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia NOG disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia UGT1A5 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia APEX1 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia GRAP2 disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia KLF10 disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia TBP disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia CTAA1 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia MIR155 disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia CD37 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia BRD4 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia VDR disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia PRKCSH disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia UGT1A9 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia CD38 disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia AIMP2 disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia SOST disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia NTF6B disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia CCL18 disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia SCLT1 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia LEP disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia GATA1 disease C0005283 GeneticVariation 0.01 orphanet , disgenet
beta-Thalassemia FUT4 disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia AFP disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia SPN disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia PGD disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia CRK disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia IFNA1 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia FUT1 disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia DPP4 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia CPB2 disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia SACS disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia AP5Z1 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia HLA-G disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia HMGB1 disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia ATRX disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia KL disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia SLC4A1 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia CYP3A4 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia TPH1 disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia ALB disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia OR13J1 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia PRDX2 disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia HLA-DPB1 disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia TNFSF11 disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia DNASE1 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia COL1A1 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia MAS1 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia ERFE disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia HBE1 disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia H6PD disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia ZHX2 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia ANK2 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia OPN1MW3 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia SAMD14 disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia HLA-DQB1 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia GSTA1 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia CA2 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia PGF disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia ANXA5 disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia GSN disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia CRP disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia SORBS1 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia SLC35A2 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia SEC23B disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia RANGAP1 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia OPN1LW disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia CAP1 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia OPN1MW2 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia UGGT1 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia MIR182 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia SLCO2A1 disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia SERPINB6 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia RPS19 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia KIR3DL1 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia CD19 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia HPT disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia XPO1 disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia RNGTT disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia TRPV1 disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia MAPK1 disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia HBZ disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia TNFRSF11A disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia CREB1 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia F5 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia MIR326 disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia RNF19A disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia LOH19CR1 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia UGDH disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia MAPK14 disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia CUL9 disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia VEGFA disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia AICDA disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia SPTA1 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia FCAR disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia PRDX1 disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia POLDIP2 disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia PTH disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia IFNA13 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia CRYL1 disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia LNPEP disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia AHSA1 disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia COX8A disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia HACD1 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia TGFB1 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia TNF disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia SHBG disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia UGT1A disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia PALLD disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia OPN1MW disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia H19 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia GLUD1 disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia FBN2 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia F2 disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia UGT1A3 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia PRDX5 disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia FN1 disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia CD177 disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia CYP2E1 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia ATOH8 disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia BACH1 disease C0005283 AlteredExpression 0.01 disgenet
beta-Thalassemia SPTBN1 disease C0005283 GeneticVariation 0.01 disgenet
beta-Thalassemia THOC5 disease C0005283 Biomarker 0.01 disgenet
beta-Thalassemia B2M disease C0005283 AlteredExpression 0.01 disgenet
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