Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Craniofacial Dysostoses FGFR2 disease C0010273 Biomarker 0.7 orphanet , disgenet
Craniofacial Dysostoses FGFR2 disease C0010273 GeneticVariation 0.7 orphanet , disgenet
Craniofacial Dysostoses FGFR2 disease C0010273 AlteredExpression 0.7 orphanet , disgenet
Craniofacial Dysostoses FGFR2 disease C0010273 PosttranslationalModification 0.7 orphanet , disgenet
Craniofacial Dysostoses FGFR3 disease C0010273 GeneticVariation 0.06 orphanet , disgenet
Craniofacial Dysostoses MSX1 disease C0010273 GeneticVariation 0.01 disgenet
Craniofacial Dysostoses DYRK3 disease C0010273 GeneticVariation 0.01 disgenet
Craniofacial Dysostoses NPPC disease C0010273 Biomarker 0.01 disgenet
Craniofacial Dysostoses IK disease C0010273 GeneticVariation 0.01 disgenet
Craniofacial Dysostoses TKTL1 disease C0010273 GeneticVariation 0.01 disgenet
Craniofacial Dysostoses FGF2 disease C0010273 GeneticVariation 0.01 disgenet
Craniofacial Dysostoses BGN disease C0010273 AlteredExpression 0.01 disgenet
Craniofacial Dysostoses TK1 disease C0010273 GeneticVariation 0.01 disgenet
Craniofacial Dysostoses FGFR1 disease C0010273 GeneticVariation 0.01 disgenet
Craniofacial Dysostoses TK2 disease C0010273 GeneticVariation 0.01 disgenet
Craniofacial Dysostoses GPC3 disease C0010273 Biomarker 0.01 disgenet
Craniofacial Dysostoses NUBP2 disease C0010273 GeneticVariation 0.01 disgenet
Craniofacial Dysostoses ERF NA C0010273 NA NA orphanet
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