Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Synostoses TWIST1 disease C0039093 GeneticVariation 0.07 disgenet
Synostoses TWIST1 disease C0039093 Biomarker 0.07 disgenet
Synostoses FGFR3 disease C0039093 GeneticVariation 0.07 disgenet
Synostoses TCF12 disease C0039093 GeneticVariation 0.03 disgenet
Synostoses NOG disease C0039093 GeneticVariation 0.02 orphanet , disgenet
Synostoses MSX2 disease C0039093 Biomarker 0.02 disgenet
Synostoses FGFR2 disease C0039093 GeneticVariation 0.02 disgenet
Synostoses NOG disease C0039093 Biomarker 0.02 orphanet , disgenet
Synostoses GDF6 disease C0039093 GeneticVariation 0.02 disgenet
Synostoses HOXA11 disease C0039093 GeneticVariation 0.02 disgenet
Synostoses ZIC1 disease C0039093 GeneticVariation 0.01 disgenet
Synostoses LRPAP1 disease C0039093 Biomarker 0.01 disgenet
Synostoses NELL1 disease C0039093 Biomarker 0.01 disgenet
Synostoses EFNB1 disease C0039093 GeneticVariation 0.01 disgenet
Synostoses EFNA4 disease C0039093 Biomarker 0.01 disgenet
Synostoses FGFR1 disease C0039093 GeneticVariation 0.01 disgenet
Synostoses SMAD6 disease C0039093 Biomarker 0.01 disgenet
Synostoses IGF1 disease C0039093 AlteredExpression 0.01 disgenet
Synostoses PBX1 disease C0039093 GeneticVariation 0.01 disgenet
Synostoses TGFB2 disease C0039093 Biomarker 0.01 disgenet
Synostoses POR disease C0039093 GeneticVariation 0.01 disgenet
Synostoses RUNX2 disease C0039093 Biomarker 0.01 disgenet
Synostoses FGF9 disease C0039093 GeneticVariation 0.01 orphanet , disgenet
Synostoses EFNA4 disease C0039093 GeneticVariation 0.01 disgenet
Synostoses CYP26B1 disease C0039093 GeneticVariation 0.01 disgenet
Synostoses CUP2Q35 disease C0039093 AlteredExpression 0.01 disgenet
Synostoses IGF1R disease C0039093 GeneticVariation 0.01 disgenet
Synostoses FLNB disease C0039093 GeneticVariation 0.01 disgenet
Synostoses GDF5 NA C0039093 NA NA orphanet
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