Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Hyperostoses PTH disease C0020492 Biomarker 0.3 disgenet
Hyperostoses GALNT3 disease C0020492 Biomarker 0.13 orphanet , disgenet
Hyperostoses GALNT3 disease C0020492 GeneticVariation 0.13 orphanet , disgenet
Hyperostoses LEMD3 disease C0020492 Biomarker 0.11 disgenet
Hyperostoses LEMD3 disease C0020492 GeneticVariation 0.11 disgenet
Hyperostoses WIPF1 disease C0020492 Biomarker 0.1 disgenet
Hyperostoses WAS disease C0020492 Biomarker 0.1 disgenet
Hyperostoses POLR3GL disease C0020492 GeneticVariation 0.1 disgenet
Hyperostoses PTEN disease C0020492 Biomarker 0.1 disgenet
Hyperostoses LRP5 disease C0020492 Biomarker 0.1 orphanet , disgenet
Hyperostoses GNAQ disease C0020492 Biomarker 0.1 disgenet
Hyperostoses SLCO2A1 disease C0020492 Biomarker 0.1 disgenet
Hyperostoses PSMB8 disease C0020492 Biomarker 0.1 disgenet
Hyperostoses TGFB1 disease C0020492 Biomarker 0.1 disgenet
Hyperostoses SOST disease C0020492 Biomarker 0.08 disgenet
Hyperostoses SOST disease C0020492 AlteredExpression 0.08 disgenet
Hyperostoses SOST disease C0020492 GeneticVariation 0.08 disgenet
Hyperostoses FGFR3 disease C0020492 Biomarker 0.03 disgenet
Hyperostoses FGFR3 disease C0020492 GeneticVariation 0.03 disgenet
Hyperostoses FGF23 disease C0020492 AlteredExpression 0.02 orphanet , disgenet
Hyperostoses FGF23 disease C0020492 GeneticVariation 0.02 orphanet , disgenet
Hyperostoses BMPR1A disease C0020492 Biomarker 0.02 disgenet
Hyperostoses BMPR1A disease C0020492 GeneticVariation 0.02 disgenet
Hyperostoses FLNA disease C0020492 Biomarker 0.01 disgenet
Hyperostoses SPP1 disease C0020492 Biomarker 0.01 disgenet
Hyperostoses AKT1 disease C0020492 GeneticVariation 0.01 disgenet
Hyperostoses SLC39A14 disease C0020492 Biomarker 0.01 disgenet
Hyperostoses PIK3CD disease C0020492 AlteredExpression 0.01 disgenet
Hyperostoses EBP disease C0020492 GeneticVariation 0.01 disgenet
Hyperostoses RUNX2 disease C0020492 Biomarker 0.01 disgenet
Hyperostoses ADAMTS1 disease C0020492 Biomarker 0.01 disgenet
Hyperostoses IGF1 disease C0020492 AlteredExpression 0.01 disgenet
Hyperostoses TGFBI disease C0020492 Biomarker 0.01 disgenet
Hyperostoses TGFB2 disease C0020492 AlteredExpression 0.01 disgenet
Hyperostoses OPLL disease C0020492 Biomarker 0.01 disgenet
Hyperostoses EXT1 disease C0020492 GeneticVariation 0.01 disgenet
Hyperostoses TNFRSF11B disease C0020492 AlteredExpression 0.01 disgenet
Hyperostoses AMER1 disease C0020492 Biomarker 0.01 disgenet
Hyperostoses LRP6 disease C0020492 GeneticVariation 0.01 disgenet
Hyperostoses PIK3CA disease C0020492 AlteredExpression 0.01 disgenet
Hyperostoses RPS19 disease C0020492 Biomarker 0.01 disgenet
Hyperostoses PAPPA disease C0020492 Biomarker 0.01 disgenet
Hyperostoses PIK3CB disease C0020492 AlteredExpression 0.01 disgenet
Hyperostoses EXT2 disease C0020492 GeneticVariation 0.01 disgenet
Hyperostoses ANXA5 disease C0020492 Biomarker 0.01 disgenet
Hyperostoses PIK3CG disease C0020492 AlteredExpression 0.01 disgenet
Hyperostoses ALPL disease C0020492 GeneticVariation 0.01 disgenet
Hyperostoses DLC1 disease C0020492 AlteredExpression 0.01 disgenet
Hyperostoses HLA-B disease C0020492 Biomarker 0.01 disgenet
Hyperostoses BGLAP disease C0020492 GeneticVariation 0.01 disgenet
Hyperostoses BMP2 disease C0020492 Biomarker 0.01 disgenet
Hyperostoses CCL2 disease C0020492 AlteredExpression 0.01 disgenet
Hyperostoses DMP1 disease C0020492 Biomarker 0.01 disgenet
Hyperostoses HTR1B disease C0020492 Biomarker 0.01 disgenet
Hyperostoses GLI3 disease C0020492 Biomarker 0.01 disgenet
Hyperostoses TPH1 disease C0020492 Biomarker 0.01 disgenet
Hyperostoses LEP disease C0020492 AlteredExpression 0.01 disgenet
Hyperostoses KL NA C0020492 NA NA orphanet
Hyperostoses COX4I2 NA C0020492 NA NA orphanet
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