Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Osteogenesis Imperfecta COL1A1 disease C0029434 Biomarker 0.9 orphanet , disgenet
Osteogenesis Imperfecta COL1A1 disease C0029434 GeneticVariation 0.9 orphanet , disgenet
Osteogenesis Imperfecta COL1A1 disease C0029434 CausalMutation 0.9 orphanet , disgenet
Osteogenesis Imperfecta COL1A2 disease C0029434 GeneticVariation 0.7 orphanet , disgenet
Osteogenesis Imperfecta COL1A2 disease C0029434 AlteredExpression 0.7 orphanet , disgenet
Osteogenesis Imperfecta COL1A2 disease C0029434 CausalMutation 0.7 orphanet , disgenet
Osteogenesis Imperfecta COL1A2 disease C0029434 Biomarker 0.7 orphanet , disgenet
Osteogenesis Imperfecta SERPINF1 disease C0029434 AlteredExpression 0.6 disgenet
Osteogenesis Imperfecta P3H1 disease C0029434 Biomarker 0.6 disgenet
Osteogenesis Imperfecta P3H1 disease C0029434 GeneticVariation 0.6 disgenet
Osteogenesis Imperfecta SERPINF1 disease C0029434 Biomarker 0.6 disgenet
Osteogenesis Imperfecta CRTAP disease C0029434 Biomarker 0.6 disgenet
Osteogenesis Imperfecta SERPINF1 disease C0029434 GeneticVariation 0.6 disgenet
Osteogenesis Imperfecta CRTAP disease C0029434 GeneticVariation 0.6 disgenet
Osteogenesis Imperfecta SPARC disease C0029434 GeneticVariation 0.52 disgenet
Osteogenesis Imperfecta SPARC disease C0029434 AlteredExpression 0.52 disgenet
Osteogenesis Imperfecta SPARC disease C0029434 Biomarker 0.52 disgenet
Osteogenesis Imperfecta WNT1 disease C0029434 GeneticVariation 0.4 disgenet
Osteogenesis Imperfecta WNT1 disease C0029434 Biomarker 0.4 disgenet
Osteogenesis Imperfecta TMEM38B disease C0029434 GeneticVariation 0.39 disgenet
Osteogenesis Imperfecta TMEM38B disease C0029434 Biomarker 0.39 disgenet
Osteogenesis Imperfecta PLOD2 disease C0029434 Biomarker 0.35 disgenet
Osteogenesis Imperfecta PLOD2 disease C0029434 GeneticVariation 0.35 disgenet
Osteogenesis Imperfecta P4HB disease C0029434 Biomarker 0.32 disgenet
Osteogenesis Imperfecta P4HB disease C0029434 AlteredExpression 0.32 disgenet
Osteogenesis Imperfecta MESD disease C0029434 GeneticVariation 0.31 disgenet
Osteogenesis Imperfecta MESD disease C0029434 Biomarker 0.31 disgenet
Osteogenesis Imperfecta TAPT1 disease C0029434 Biomarker 0.3 disgenet
Osteogenesis Imperfecta PPIB disease C0029434 GeneticVariation 0.3 disgenet
Osteogenesis Imperfecta SERPINH1 disease C0029434 GeneticVariation 0.3 disgenet
Osteogenesis Imperfecta PPIB disease C0029434 Biomarker 0.3 disgenet
Osteogenesis Imperfecta TENT5A disease C0029434 Biomarker 0.3 disgenet
Osteogenesis Imperfecta SERPINH1 disease C0029434 AlteredExpression 0.3 disgenet
Osteogenesis Imperfecta SERPINH1 disease C0029434 Biomarker 0.3 disgenet
Osteogenesis Imperfecta SMAD4 disease C0029434 Biomarker 0.21 disgenet
Osteogenesis Imperfecta SMPD3 disease C0029434 Biomarker 0.21 disgenet
Osteogenesis Imperfecta SUCO disease C0029434 Biomarker 0.2 disgenet
Osteogenesis Imperfecta CREB3L1 disease C0029434 Biomarker 0.15 disgenet
Osteogenesis Imperfecta CREB3L1 disease C0029434 GeneticVariation 0.15 disgenet
Osteogenesis Imperfecta CREB3L1 disease C0029434 CausalMutation 0.15 disgenet
Osteogenesis Imperfecta BMP1 disease C0029434 GeneticVariation 0.1 orphanet , disgenet
Osteogenesis Imperfecta BMP1 disease C0029434 Biomarker 0.1 orphanet , disgenet
Osteogenesis Imperfecta FKBP10 disease C0029434 Biomarker 0.1 disgenet
Osteogenesis Imperfecta FKBP10 disease C0029434 GeneticVariation 0.1 disgenet
Osteogenesis Imperfecta IFITM5 disease C0029434 GeneticVariation 0.1 disgenet
Osteogenesis Imperfecta SOST disease C0029434 Biomarker 0.09 disgenet
Osteogenesis Imperfecta SOST disease C0029434 AlteredExpression 0.09 disgenet
Osteogenesis Imperfecta PPP1R2C disease C0029434 GeneticVariation 0.08 disgenet
Osteogenesis Imperfecta PPP1R2C disease C0029434 Biomarker 0.08 disgenet
Osteogenesis Imperfecta BGLAP disease C0029434 AlteredExpression 0.05 disgenet
Osteogenesis Imperfecta DMD disease C0029434 Biomarker 0.05 disgenet
Osteogenesis Imperfecta BGLAP disease C0029434 GeneticVariation 0.05 disgenet
Osteogenesis Imperfecta BGLAP disease C0029434 Biomarker 0.05 disgenet
Osteogenesis Imperfecta DMD disease C0029434 GeneticVariation 0.05 disgenet
Osteogenesis Imperfecta GH1 disease C0029434 Biomarker 0.04 disgenet
Osteogenesis Imperfecta BEST1 disease C0029434 Biomarker 0.04 disgenet
Osteogenesis Imperfecta ACVR2B disease C0029434 GeneticVariation 0.04 disgenet
Osteogenesis Imperfecta ACVR2B disease C0029434 Biomarker 0.04 disgenet
Osteogenesis Imperfecta GH1 disease C0029434 AlteredExpression 0.04 disgenet
Osteogenesis Imperfecta SEC24D disease C0029434 GeneticVariation 0.03 disgenet
Osteogenesis Imperfecta PNPLA2 disease C0029434 Biomarker 0.03 disgenet
Osteogenesis Imperfecta FGFR3 disease C0029434 Biomarker 0.03 disgenet
Osteogenesis Imperfecta LRP5 disease C0029434 Biomarker 0.02 disgenet
Osteogenesis Imperfecta PLS3 disease C0029434 Biomarker 0.02 disgenet
Osteogenesis Imperfecta PLS3 disease C0029434 GeneticVariation 0.02 disgenet
Osteogenesis Imperfecta TLL1 disease C0029434 Biomarker 0.02 disgenet
Osteogenesis Imperfecta DCN disease C0029434 AlteredExpression 0.02 disgenet
Osteogenesis Imperfecta DCN disease C0029434 GeneticVariation 0.02 disgenet
Osteogenesis Imperfecta COX8A disease C0029434 Biomarker 0.02 disgenet
Osteogenesis Imperfecta COX8A disease C0029434 GeneticVariation 0.02 disgenet
Osteogenesis Imperfecta AGA2 disease C0029434 Biomarker 0.02 disgenet
Osteogenesis Imperfecta MTCO2P12 disease C0029434 GeneticVariation 0.01 disgenet
Osteogenesis Imperfecta SRSF2 disease C0029434 GeneticVariation 0.01 disgenet
Osteogenesis Imperfecta COX2 disease C0029434 GeneticVariation 0.01 disgenet
Osteogenesis Imperfecta KRIT1 disease C0029434 Biomarker 0.01 disgenet
Osteogenesis Imperfecta EIF2AK3 disease C0029434 GeneticVariation 0.01 disgenet
Osteogenesis Imperfecta LRP6 disease C0029434 Biomarker 0.01 disgenet
Osteogenesis Imperfecta PPP1CB disease C0029434 GeneticVariation 0.01 disgenet
Osteogenesis Imperfecta LOX disease C0029434 Biomarker 0.01 disgenet
Osteogenesis Imperfecta GPATCH8 disease C0029434 GeneticVariation 0.01 disgenet
Osteogenesis Imperfecta DLX3 disease C0029434 Biomarker 0.01 disgenet
Osteogenesis Imperfecta PTGS2 disease C0029434 GeneticVariation 0.01 disgenet
Osteogenesis Imperfecta CD38 disease C0029434 Biomarker 0.01 disgenet
Osteogenesis Imperfecta PTH disease C0029434 Biomarker 0.01 disgenet
Osteogenesis Imperfecta SP7 disease C0029434 GeneticVariation 0.01 disgenet
Osteogenesis Imperfecta FN1 disease C0029434 Biomarker 0.01 disgenet
Osteogenesis Imperfecta PADI1 disease C0029434 AlteredExpression 0.01 disgenet
Osteogenesis Imperfecta TNXB disease C0029434 GeneticVariation 0.01 disgenet
Osteogenesis Imperfecta LAMC2 disease C0029434 GeneticVariation 0.01 disgenet
Osteogenesis Imperfecta TSC1 disease C0029434 GeneticVariation 0.01 disgenet
Osteogenesis Imperfecta MIR29B1 disease C0029434 AlteredExpression 0.01 disgenet
Osteogenesis Imperfecta LOC107984355 disease C0029434 GeneticVariation 0.01 disgenet
Osteogenesis Imperfecta MSTN disease C0029434 GeneticVariation 0.01 disgenet
Osteogenesis Imperfecta RNASE1 disease C0029434 Biomarker 0.01 disgenet
Osteogenesis Imperfecta LINC01672 disease C0029434 GeneticVariation 0.01 disgenet
Osteogenesis Imperfecta MIR29B2 disease C0029434 AlteredExpression 0.01 disgenet
Osteogenesis Imperfecta CD44 disease C0029434 AlteredExpression 0.01 disgenet
Osteogenesis Imperfecta MED18 disease C0029434 GeneticVariation 0.01 disgenet
Osteogenesis Imperfecta IGF1 disease C0029434 Biomarker 0.01 disgenet
Osteogenesis Imperfecta COL5A1 disease C0029434 GeneticVariation 0.01 disgenet
Osteogenesis Imperfecta ALPL disease C0029434 GeneticVariation 0.01 disgenet
Osteogenesis Imperfecta CSF2 disease C0029434 GeneticVariation 0.01 disgenet
Osteogenesis Imperfecta TNFSF11 disease C0029434 Biomarker 0.01 disgenet
Osteogenesis Imperfecta BAAT disease C0029434 Biomarker 0.01 disgenet
Osteogenesis Imperfecta PDIA2 disease C0029434 AlteredExpression 0.01 disgenet
Osteogenesis Imperfecta RER disease C0029434 GeneticVariation 0.01 disgenet
Osteogenesis Imperfecta MBTPS2 disease C0029434 GeneticVariation 0.01 disgenet
Osteogenesis Imperfecta TNC disease C0029434 Biomarker 0.01 disgenet
Osteogenesis Imperfecta PLA1A disease C0029434 Biomarker 0.01 disgenet
Osteogenesis Imperfecta MIR145 disease C0029434 Biomarker 0.01 disgenet
Osteogenesis Imperfecta WWTR1 disease C0029434 GeneticVariation 0.01 disgenet
Osteogenesis Imperfecta BGN disease C0029434 AlteredExpression 0.01 disgenet
Osteogenesis Imperfecta EFEMP2 disease C0029434 GeneticVariation 0.01 disgenet
Osteogenesis Imperfecta GPR180 disease C0029434 Biomarker 0.01 disgenet
Osteogenesis Imperfecta ACTB disease C0029434 GeneticVariation 0.01 disgenet
Osteogenesis Imperfecta NBAS disease C0029434 GeneticVariation 0.01 disgenet
Osteogenesis Imperfecta CHRM3 disease C0029434 Biomarker 0.01 disgenet
Osteogenesis Imperfecta TRAP disease C0029434 AlteredExpression 0.01 disgenet
Osteogenesis Imperfecta COL3A1 disease C0029434 GeneticVariation 0.01 disgenet
Osteogenesis Imperfecta TSPO disease C0029434 Biomarker 0.01 disgenet
Osteogenesis Imperfecta CXCR4 disease C0029434 Biomarker 0.01 disgenet
Osteogenesis Imperfecta SLC6A2 disease C0029434 GeneticVariation 0.01 disgenet
Osteogenesis Imperfecta TSHR disease C0029434 Biomarker 0.01 disgenet
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