Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hamartomas CYP1A1 disease C0018552 Biomarker 0.31 disgenet
Hamartomas CYP1A1 disease C0018552 AlteredExpression 0.31 disgenet
Hamartomas FLCN disease C0018552 Biomarker 0.3 disgenet
Hamartomas TSC2 disease C0018552 CausalMutation 0.2 disgenet
Hamartomas TSC2 disease C0018552 GeneticVariation 0.2 disgenet
Hamartomas TSC2 disease C0018552 AlteredExpression 0.2 disgenet
Hamartomas TSC2 disease C0018552 Biomarker 0.2 disgenet
Hamartomas PTEN disease C0018552 GeneticVariation 0.2 disgenet
Hamartomas PTEN disease C0018552 CausalMutation 0.2 disgenet
Hamartomas PTEN disease C0018552 Biomarker 0.2 disgenet
Hamartomas SMO disease C0018552 GeneticVariation 0.11 disgenet
Hamartomas SMO disease C0018552 CausalMutation 0.11 disgenet
Hamartomas STK11 disease C0018552 AlteredExpression 0.1 disgenet
Hamartomas TCTN3 disease C0018552 Biomarker 0.1 disgenet
Hamartomas STK11 disease C0018552 Biomarker 0.1 disgenet
Hamartomas DYNC2LI1 disease C0018552 Biomarker 0.1 disgenet
Hamartomas TSC1 disease C0018552 AlteredExpression 0.1 disgenet
Hamartomas STK11 disease C0018552 GeneticVariation 0.1 disgenet
Hamartomas TFAP2A disease C0018552 Biomarker 0.1 disgenet
Hamartomas HMGA2 disease C0018552 GeneticVariation 0.1 disgenet
Hamartomas KLLN disease C0018552 Biomarker 0.1 disgenet
Hamartomas NTRK2 disease C0018552 GeneticVariation 0.1 disgenet
Hamartomas ACTB disease C0018552 Biomarker 0.1 disgenet
Hamartomas NEK9 disease C0018552 Biomarker 0.1 disgenet
Hamartomas TSC1 disease C0018552 GeneticVariation 0.1 disgenet
Hamartomas HMGA2 disease C0018552 AlteredExpression 0.1 disgenet
Hamartomas ACVR1 disease C0018552 Biomarker 0.1 disgenet
Hamartomas HMGA2 disease C0018552 Biomarker 0.1 disgenet
Hamartomas CDC73 disease C0018552 Biomarker 0.1 disgenet
Hamartomas TSC1 disease C0018552 Biomarker 0.1 disgenet
Hamartomas MTOR disease C0018552 GeneticVariation 0.08 disgenet
Hamartomas MTOR disease C0018552 AlteredExpression 0.08 disgenet
Hamartomas MTOR disease C0018552 Biomarker 0.08 disgenet
Hamartomas SMAD4 disease C0018552 GeneticVariation 0.06 disgenet
Hamartomas SMAD4 disease C0018552 Biomarker 0.06 disgenet
Hamartomas TESC disease C0018552 AlteredExpression 0.05 disgenet
Hamartomas TESC disease C0018552 GeneticVariation 0.05 disgenet
Hamartomas SLC12A3 disease C0018552 GeneticVariation 0.05 disgenet
Hamartomas SLC12A3 disease C0018552 AlteredExpression 0.05 disgenet
Hamartomas TESC disease C0018552 Biomarker 0.05 disgenet
Hamartomas SLC12A3 disease C0018552 Biomarker 0.05 disgenet
Hamartomas LPP disease C0018552 AlteredExpression 0.04 disgenet
Hamartomas LPP disease C0018552 Biomarker 0.04 disgenet
Hamartomas LPP disease C0018552 GeneticVariation 0.04 disgenet
Hamartomas PIK3CD disease C0018552 AlteredExpression 0.03 disgenet
Hamartomas GLI3 disease C0018552 Biomarker 0.03 disgenet
Hamartomas GLI3 disease C0018552 GeneticVariation 0.03 disgenet
Hamartomas PIK3CA disease C0018552 Biomarker 0.03 disgenet
Hamartomas TP53 disease C0018552 Biomarker 0.03 disgenet
Hamartomas PIK3CA disease C0018552 AlteredExpression 0.03 disgenet
Hamartomas PIK3CD disease C0018552 Biomarker 0.03 disgenet
Hamartomas CDX2 disease C0018552 Biomarker 0.03 disgenet
Hamartomas TP53 disease C0018552 GeneticVariation 0.03 disgenet
Hamartomas TP53 disease C0018552 AlteredExpression 0.03 disgenet
Hamartomas PIK3CB disease C0018552 Biomarker 0.02 disgenet
Hamartomas PTGS2 disease C0018552 AlteredExpression 0.02 disgenet
Hamartomas MTCO2P12 disease C0018552 AlteredExpression 0.02 disgenet
Hamartomas COX2 disease C0018552 GeneticVariation 0.02 disgenet
Hamartomas PIK3CB disease C0018552 AlteredExpression 0.02 disgenet
Hamartomas TEP1 disease C0018552 Biomarker 0.02 disgenet
Hamartomas TEP1 disease C0018552 GeneticVariation 0.02 disgenet
Hamartomas COX2 disease C0018552 AlteredExpression 0.02 disgenet
Hamartomas MTCO2P12 disease C0018552 GeneticVariation 0.02 disgenet
Hamartomas CD34 disease C0018552 Biomarker 0.02 disgenet
Hamartomas PTGS2 disease C0018552 GeneticVariation 0.02 disgenet
Hamartomas PIK3CG disease C0018552 Biomarker 0.02 disgenet
Hamartomas PIK3CG disease C0018552 AlteredExpression 0.02 disgenet
Hamartomas RAD51B disease C0018552 Biomarker 0.02 disgenet
Hamartomas CDKN1A disease C0018552 Biomarker 0.01 disgenet
Hamartomas SDHB disease C0018552 AlteredExpression 0.01 disgenet
Hamartomas PGRMC1 disease C0018552 Biomarker 0.01 disgenet
Hamartomas CLCN7 disease C0018552 GeneticVariation 0.01 disgenet
Hamartomas SMUG1 disease C0018552 Biomarker 0.01 disgenet
Hamartomas GSTM1 disease C0018552 Biomarker 0.01 disgenet
Hamartomas HMGA1 disease C0018552 GeneticVariation 0.01 disgenet
Hamartomas GREM1 disease C0018552 Biomarker 0.01 disgenet
Hamartomas AKT1S1 disease C0018552 Biomarker 0.01 disgenet
Hamartomas BRAF disease C0018552 GeneticVariation 0.01 disgenet
Hamartomas IFI27 disease C0018552 AlteredExpression 0.01 disgenet
Hamartomas H3P23 disease C0018552 AlteredExpression 0.01 disgenet
Hamartomas SMARCB1 disease C0018552 Biomarker 0.01 disgenet
Hamartomas TICAM2 disease C0018552 AlteredExpression 0.01 disgenet
Hamartomas EREG disease C0018552 Biomarker 0.01 disgenet
Hamartomas RPE disease C0018552 GeneticVariation 0.01 disgenet
Hamartomas SLC12A9 disease C0018552 Biomarker 0.01 disgenet
Hamartomas EGFR disease C0018552 Biomarker 0.01 disgenet
Hamartomas MIR21 disease C0018552 Biomarker 0.01 disgenet
Hamartomas DICER1 disease C0018552 GeneticVariation 0.01 disgenet
Hamartomas WDPCP disease C0018552 GeneticVariation 0.01 orphanet , disgenet
Hamartomas GRM1 disease C0018552 AlteredExpression 0.01 disgenet
Hamartomas DKK1 disease C0018552 Biomarker 0.01 disgenet
Hamartomas TIMP1 disease C0018552 AlteredExpression 0.01 disgenet
Hamartomas NGFR disease C0018552 AlteredExpression 0.01 disgenet
Hamartomas GNAS disease C0018552 AlteredExpression 0.01 disgenet
Hamartomas MDM2 disease C0018552 Biomarker 0.01 disgenet
Hamartomas CD6 disease C0018552 GeneticVariation 0.01 disgenet
Hamartomas TMED7 disease C0018552 AlteredExpression 0.01 disgenet
Hamartomas FBXW7 disease C0018552 Biomarker 0.01 disgenet
Hamartomas CDKN2A disease C0018552 Biomarker 0.01 disgenet
Hamartomas KRT20 disease C0018552 Biomarker 0.01 disgenet
Hamartomas LHFPL6 disease C0018552 AlteredExpression 0.01 disgenet
Hamartomas RET disease C0018552 GeneticVariation 0.01 disgenet
Hamartomas SUFU disease C0018552 Biomarker 0.01 disgenet
Hamartomas CMM disease C0018552 Biomarker 0.01 disgenet
Hamartomas VEGFA disease C0018552 Biomarker 0.01 disgenet
Hamartomas OSTM1 disease C0018552 GeneticVariation 0.01 disgenet
Hamartomas FBLIM1 disease C0018552 Biomarker 0.01 disgenet
Hamartomas LAMA4 disease C0018552 GeneticVariation 0.01 disgenet
Hamartomas GSTM2 disease C0018552 Biomarker 0.01 disgenet
Hamartomas LGR5 disease C0018552 AlteredExpression 0.01 disgenet
Hamartomas PSMD9 disease C0018552 AlteredExpression 0.01 disgenet
Hamartomas IGF2 disease C0018552 PosttranslationalModification 0.01 disgenet
Hamartomas SHH disease C0018552 Biomarker 0.01 disgenet
Hamartomas DCTN6 disease C0018552 AlteredExpression 0.01 disgenet
Hamartomas GSTT1 disease C0018552 GeneticVariation 0.01 disgenet
Hamartomas ESR2 disease C0018552 AlteredExpression 0.01 disgenet
Hamartomas MOGS disease C0018552 GeneticVariation 0.01 disgenet
Hamartomas ZNRD2 disease C0018552 AlteredExpression 0.01 disgenet
Hamartomas ABCA4 disease C0018552 GeneticVariation 0.01 disgenet
Hamartomas GOPC disease C0018552 Biomarker 0.01 disgenet
Hamartomas PRRX1 disease C0018552 Biomarker 0.01 disgenet
Hamartomas VIM disease C0018552 Biomarker 0.01 disgenet
Hamartomas SLC29A2 disease C0018552 GeneticVariation 0.01 disgenet
Hamartomas TMED7-TICAM2 disease C0018552 AlteredExpression 0.01 disgenet
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