Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
alpha-Thalassemia HBA2 disease C0002312 CausalMutation 0.8 orphanet , disgenet
alpha-Thalassemia HBA2 disease C0002312 GeneticVariation 0.8 orphanet , disgenet
alpha-Thalassemia HBA1 disease C0002312 Biomarker 0.8 orphanet , disgenet
alpha-Thalassemia HBA2 disease C0002312 AlteredExpression 0.8 orphanet , disgenet
alpha-Thalassemia HBA2 disease C0002312 Biomarker 0.8 orphanet , disgenet
alpha-Thalassemia HBA2 disease C0002312 GermlineCausalMutation 0.8 orphanet , disgenet
alpha-Thalassemia HBA1 disease C0002312 GermlineCausalMutation 0.8 orphanet , disgenet
alpha-Thalassemia HBA1 disease C0002312 AlteredExpression 0.8 orphanet , disgenet
alpha-Thalassemia HBA1 disease C0002312 CausalMutation 0.8 orphanet , disgenet
alpha-Thalassemia HBA1 disease C0002312 GeneticVariation 0.8 orphanet , disgenet
alpha-Thalassemia HBB disease C0002312 CausalMutation 0.5 disgenet
alpha-Thalassemia HBB disease C0002312 Biomarker 0.5 disgenet
alpha-Thalassemia HBB disease C0002312 AlteredExpression 0.5 disgenet
alpha-Thalassemia HBB disease C0002312 GeneticVariation 0.5 disgenet
alpha-Thalassemia ATRX disease C0002312 GeneticVariation 0.3 orphanet , disgenet
alpha-Thalassemia ATRX disease C0002312 Biomarker 0.3 orphanet , disgenet
alpha-Thalassemia ATRX disease C0002312 AlteredExpression 0.3 orphanet , disgenet
alpha-Thalassemia G6PD disease C0002312 Biomarker 0.1 disgenet
alpha-Thalassemia HBG2 disease C0002312 AlteredExpression 0.1 disgenet
alpha-Thalassemia G6PD disease C0002312 GeneticVariation 0.1 disgenet
alpha-Thalassemia HBG2 disease C0002312 Biomarker 0.1 disgenet
alpha-Thalassemia SEA disease C0002312 Biomarker 0.1 disgenet
alpha-Thalassemia SEA disease C0002312 GeneticVariation 0.1 disgenet
alpha-Thalassemia HBG2 disease C0002312 GeneticVariation 0.1 disgenet
alpha-Thalassemia HBZ disease C0002312 Biomarker 0.09 disgenet
alpha-Thalassemia HBZ disease C0002312 GeneticVariation 0.09 disgenet
alpha-Thalassemia UGT1A1 disease C0002312 AlteredExpression 0.07 disgenet
alpha-Thalassemia ATR disease C0002312 GeneticVariation 0.07 disgenet
alpha-Thalassemia UGT1A1 disease C0002312 GeneticVariation 0.07 disgenet
alpha-Thalassemia UGT1A1 disease C0002312 Biomarker 0.07 disgenet
alpha-Thalassemia PMCH disease C0002312 Biomarker 0.07 disgenet
alpha-Thalassemia PMCH disease C0002312 AlteredExpression 0.07 disgenet
alpha-Thalassemia ATR disease C0002312 Biomarker 0.07 disgenet
alpha-Thalassemia COMP disease C0002312 GeneticVariation 0.05 disgenet
alpha-Thalassemia COL9A1 disease C0002312 Biomarker 0.05 disgenet
alpha-Thalassemia COL9A1 disease C0002312 GeneticVariation 0.05 disgenet
alpha-Thalassemia HBG1 disease C0002312 GeneticVariation 0.05 disgenet
alpha-Thalassemia COL9A2 disease C0002312 GeneticVariation 0.05 disgenet
alpha-Thalassemia HBG1 disease C0002312 AlteredExpression 0.05 disgenet
alpha-Thalassemia HBG1 disease C0002312 Biomarker 0.05 disgenet
alpha-Thalassemia COL9A3 disease C0002312 Biomarker 0.05 disgenet
alpha-Thalassemia COL9A3 disease C0002312 GeneticVariation 0.05 disgenet
alpha-Thalassemia COMP disease C0002312 Biomarker 0.05 disgenet
alpha-Thalassemia COL9A2 disease C0002312 Biomarker 0.05 disgenet
alpha-Thalassemia SCN8A disease C0002312 Biomarker 0.05 disgenet
alpha-Thalassemia SCN8A disease C0002312 GeneticVariation 0.05 disgenet
alpha-Thalassemia RN7SL263P disease C0002312 AlteredExpression 0.03 disgenet
alpha-Thalassemia RN7SL263P disease C0002312 Biomarker 0.03 disgenet
alpha-Thalassemia HP disease C0002312 AlteredExpression 0.03 disgenet
alpha-Thalassemia MYB disease C0002312 GeneticVariation 0.03 disgenet
alpha-Thalassemia HP disease C0002312 GeneticVariation 0.03 disgenet
alpha-Thalassemia MYB disease C0002312 Biomarker 0.03 disgenet
alpha-Thalassemia HBS1L disease C0002312 GeneticVariation 0.03 disgenet
alpha-Thalassemia HBS1L disease C0002312 Biomarker 0.03 disgenet
alpha-Thalassemia EPO disease C0002312 GeneticVariation 0.02 disgenet
alpha-Thalassemia PSMA5 disease C0002312 GeneticVariation 0.02 disgenet
alpha-Thalassemia DAXX disease C0002312 GeneticVariation 0.02 disgenet
alpha-Thalassemia BCL11A disease C0002312 GeneticVariation 0.02 disgenet
alpha-Thalassemia OR10A4 disease C0002312 GeneticVariation 0.02 disgenet
alpha-Thalassemia AP5Z1 disease C0002312 GeneticVariation 0.02 disgenet
alpha-Thalassemia DOCK11 disease C0002312 GeneticVariation 0.02 disgenet
alpha-Thalassemia EPO disease C0002312 AlteredExpression 0.02 disgenet
alpha-Thalassemia KLF1 disease C0002312 GeneticVariation 0.02 disgenet
alpha-Thalassemia TP53 disease C0002312 AlteredExpression 0.02 disgenet
alpha-Thalassemia TP53 disease C0002312 Biomarker 0.02 disgenet
alpha-Thalassemia RASA1 disease C0002312 Biomarker 0.01 disgenet
alpha-Thalassemia CD36 disease C0002312 GeneticVariation 0.01 disgenet
alpha-Thalassemia UGT1A8 disease C0002312 GeneticVariation 0.01 disgenet
alpha-Thalassemia FTMT disease C0002312 AlteredExpression 0.01 disgenet
alpha-Thalassemia ADCY9 disease C0002312 GeneticVariation 0.01 disgenet
alpha-Thalassemia ZMPSTE24 disease C0002312 Biomarker 0.01 disgenet
alpha-Thalassemia RNGTT disease C0002312 GeneticVariation 0.01 disgenet
alpha-Thalassemia NPRL3 disease C0002312 GeneticVariation 0.01 disgenet
alpha-Thalassemia HBFQTL2 disease C0002312 GeneticVariation 0.01 disgenet
alpha-Thalassemia UGT1A4 disease C0002312 GeneticVariation 0.01 disgenet
alpha-Thalassemia ACTB disease C0002312 Biomarker 0.01 disgenet
alpha-Thalassemia MIR144 disease C0002312 AlteredExpression 0.01 disgenet
alpha-Thalassemia RUNX1 disease C0002312 GeneticVariation 0.01 disgenet
alpha-Thalassemia CD34 disease C0002312 GeneticVariation 0.01 disgenet
alpha-Thalassemia SCLT1 disease C0002312 GeneticVariation 0.01 disgenet
alpha-Thalassemia UGT1A7 disease C0002312 GeneticVariation 0.01 disgenet
alpha-Thalassemia EPGN disease C0002312 Biomarker 0.01 disgenet
alpha-Thalassemia PGD disease C0002312 GeneticVariation 0.01 disgenet
alpha-Thalassemia LINC01194 disease C0002312 GeneticVariation 0.01 disgenet
alpha-Thalassemia MTHFR disease C0002312 GeneticVariation 0.01 disgenet
alpha-Thalassemia HMOX1 disease C0002312 GeneticVariation 0.01 disgenet
alpha-Thalassemia TFRC disease C0002312 AlteredExpression 0.01 disgenet
alpha-Thalassemia TMPRSS13 disease C0002312 Biomarker 0.01 disgenet
alpha-Thalassemia PKD1 disease C0002312 Biomarker 0.01 disgenet
alpha-Thalassemia FASTK disease C0002312 Biomarker 0.01 disgenet
alpha-Thalassemia RAG2 disease C0002312 Biomarker 0.01 disgenet
alpha-Thalassemia DAP disease C0002312 GeneticVariation 0.01 disgenet
alpha-Thalassemia CD19 disease C0002312 GeneticVariation 0.01 disgenet
alpha-Thalassemia TEK disease C0002312 GeneticVariation 0.01 disgenet
alpha-Thalassemia CEBPD disease C0002312 Biomarker 0.01 disgenet
alpha-Thalassemia PDR disease C0002312 Biomarker 0.01 disgenet
alpha-Thalassemia LMNA disease C0002312 Biomarker 0.01 disgenet
alpha-Thalassemia TSPYL2 disease C0002312 AlteredExpression 0.01 disgenet
alpha-Thalassemia UGT1A6 disease C0002312 GeneticVariation 0.01 disgenet
alpha-Thalassemia SMARCA4 disease C0002312 GeneticVariation 0.01 disgenet
alpha-Thalassemia ATAD1 disease C0002312 AlteredExpression 0.01 disgenet
alpha-Thalassemia HAMP disease C0002312 Biomarker 0.01 disgenet
alpha-Thalassemia CDAN1 disease C0002312 AlteredExpression 0.01 disgenet
alpha-Thalassemia MSMB disease C0002312 Biomarker 0.01 disgenet
alpha-Thalassemia MST1 disease C0002312 Biomarker 0.01 disgenet
alpha-Thalassemia VCAM1 disease C0002312 GeneticVariation 0.01 disgenet
alpha-Thalassemia NSD1 disease C0002312 Biomarker 0.01 disgenet
alpha-Thalassemia HFE disease C0002312 GeneticVariation 0.01 disgenet
alpha-Thalassemia RGS6 disease C0002312 Biomarker 0.01 disgenet
alpha-Thalassemia SLCO1B1 disease C0002312 GeneticVariation 0.01 disgenet
alpha-Thalassemia SMARCA2 disease C0002312 GeneticVariation 0.01 disgenet
alpha-Thalassemia TGFBR3 disease C0002312 Biomarker 0.01 disgenet
alpha-Thalassemia TERC disease C0002312 AlteredExpression 0.01 disgenet
alpha-Thalassemia CD37 disease C0002312 GeneticVariation 0.01 disgenet
alpha-Thalassemia AHSP disease C0002312 Biomarker 0.01 disgenet
alpha-Thalassemia CR1 disease C0002312 GeneticVariation 0.01 disgenet
alpha-Thalassemia UGT1A10 disease C0002312 GeneticVariation 0.01 disgenet
alpha-Thalassemia F3 disease C0002312 GeneticVariation 0.01 disgenet
alpha-Thalassemia LMLN disease C0002312 Biomarker 0.01 disgenet
alpha-Thalassemia LUC7L disease C0002312 GeneticVariation 0.01 disgenet
alpha-Thalassemia HBD disease C0002312 Biomarker 0.01 disgenet
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