Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Great Vessels Transposition CFC1 disease C0040761 GeneticVariation 0.61 orphanet , disgenet
Great Vessels Transposition CFC1 disease C0040761 Biomarker 0.61 orphanet , disgenet
Great Vessels Transposition GDF1 disease C0040761 GeneticVariation 0.41 orphanet , disgenet
Great Vessels Transposition GDF1 disease C0040761 CausalMutation 0.41 orphanet , disgenet
Great Vessels Transposition GDF1 disease C0040761 Biomarker 0.41 orphanet , disgenet
Great Vessels Transposition TBX1 disease C0040761 GeneticVariation 0.2 disgenet
Great Vessels Transposition CFC1B disease C0040761 Biomarker 0.2 disgenet
Great Vessels Transposition DVL2 disease C0040761 Biomarker 0.2 disgenet
Great Vessels Transposition TBX1 disease C0040761 Biomarker 0.2 disgenet
Great Vessels Transposition HSPG2 disease C0040761 Biomarker 0.2 disgenet
Great Vessels Transposition MED13L disease C0040761 GeneticVariation 0.16 orphanet , disgenet
Great Vessels Transposition MED13L disease C0040761 Biomarker 0.16 orphanet , disgenet
Great Vessels Transposition ZIC3 disease C0040761 Biomarker 0.12 orphanet , disgenet
Great Vessels Transposition ZIC3 disease C0040761 GeneticVariation 0.12 orphanet , disgenet
Great Vessels Transposition BMP2 disease C0040761 Biomarker 0.1 disgenet
Great Vessels Transposition NKX2-5 disease C0040761 Biomarker 0.1 disgenet
Great Vessels Transposition FANCB disease C0040761 Biomarker 0.1 disgenet
Great Vessels Transposition GATA6 disease C0040761 Biomarker 0.1 disgenet
Great Vessels Transposition CFAP53 disease C0040761 Biomarker 0.1 disgenet
Great Vessels Transposition PKD1L1 disease C0040761 CausalMutation 0.1 disgenet
Great Vessels Transposition NKX2-6 disease C0040761 Biomarker 0.1 disgenet
Great Vessels Transposition WT1 disease C0040761 Biomarker 0.1 disgenet
Great Vessels Transposition ZMPSTE24 disease C0040761 Biomarker 0.1 disgenet
Great Vessels Transposition FKTN disease C0040761 Biomarker 0.1 disgenet
Great Vessels Transposition PIGL disease C0040761 Biomarker 0.1 disgenet
Great Vessels Transposition PHGDH disease C0040761 Biomarker 0.1 disgenet
Great Vessels Transposition RAB23 disease C0040761 Biomarker 0.1 disgenet
Great Vessels Transposition NODAL disease C0040761 Biomarker 0.1 disgenet
Great Vessels Transposition GJA8 disease C0040761 Biomarker 0.1 disgenet
Great Vessels Transposition CERS1 disease C0040761 CausalMutation 0.1 disgenet
Great Vessels Transposition GJA5 disease C0040761 Biomarker 0.1 disgenet
Great Vessels Transposition GPC4 disease C0040761 Biomarker 0.1 disgenet
Great Vessels Transposition GPC3 disease C0040761 Biomarker 0.1 disgenet
Great Vessels Transposition CHD7 disease C0040761 GeneticVariation 0.1 disgenet
Great Vessels Transposition LMNA disease C0040761 Biomarker 0.1 disgenet
Great Vessels Transposition GATA4 disease C0040761 Biomarker 0.1 disgenet
Great Vessels Transposition CGA disease C0040761 GeneticVariation 0.05 disgenet
Great Vessels Transposition CGA disease C0040761 Biomarker 0.05 disgenet
Great Vessels Transposition PARP1 disease C0040761 GeneticVariation 0.01 disgenet
Great Vessels Transposition HIF1A disease C0040761 AlteredExpression 0.01 disgenet
Great Vessels Transposition MED30 disease C0040761 Biomarker 0.01 disgenet
Great Vessels Transposition PITX2 disease C0040761 GeneticVariation 0.01 disgenet
Great Vessels Transposition ACVR2B disease C0040761 Biomarker 0.01 disgenet
Great Vessels Transposition HOXA1 disease C0040761 Biomarker 0.01 disgenet
Great Vessels Transposition S100A1 disease C0040761 AlteredExpression 0.01 disgenet
Great Vessels Transposition COX8A disease C0040761 GeneticVariation 0.01 disgenet
Great Vessels Transposition S100B disease C0040761 AlteredExpression 0.01 disgenet
Great Vessels Transposition CDC73 disease C0040761 GeneticVariation 0.01 disgenet
Great Vessels Transposition DNMT1 disease C0040761 GeneticVariation 0.01 disgenet
Great Vessels Transposition FOXH1 disease C0040761 Biomarker 0.01 disgenet
Great Vessels Transposition PHEX disease C0040761 GeneticVariation 0.01 disgenet
Great Vessels Transposition TGFB1 disease C0040761 GeneticVariation 0.01 disgenet
Great Vessels Transposition TGM2 disease C0040761 GeneticVariation 0.01 disgenet
Great Vessels Transposition PDE5A disease C0040761 Biomarker 0.01 disgenet
Great Vessels Transposition MOCOS disease C0040761 GeneticVariation 0.01 disgenet
Great Vessels Transposition MED12 disease C0040761 Biomarker 0.01 disgenet
Great Vessels Transposition APEX1 disease C0040761 GeneticVariation 0.01 disgenet
Great Vessels Transposition MKKS disease C0040761 GeneticVariation 0.01 disgenet
Great Vessels Transposition CECR disease C0040761 Biomarker 0.01 disgenet
Great Vessels Transposition TSC1 disease C0040761 GeneticVariation 0.01 disgenet
Great Vessels Transposition DICER1 disease C0040761 GeneticVariation 0.01 disgenet
Great Vessels Transposition BDNF disease C0040761 GeneticVariation 0.01 disgenet
Great Vessels Transposition HAP1 disease C0040761 GeneticVariation 0.01 disgenet
Great Vessels Transposition COL11A2 disease C0040761 GeneticVariation 0.01 disgenet
Great Vessels Transposition ERBB2 disease C0040761 Biomarker 0.01 disgenet
Great Vessels Transposition MED13 disease C0040761 Biomarker 0.01 disgenet
Great Vessels Transposition INSIG1 disease C0040761 GeneticVariation 0.01 disgenet
Great Vessels Transposition DNMT3A disease C0040761 GeneticVariation 0.01 disgenet
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