Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Dysostoses, Mandibulofacial TCOF1 disease C0242387 Biomarker 1 orphanet , disgenet
Dysostoses, Mandibulofacial TCOF1 disease C0242387 AlteredExpression 1 orphanet , disgenet
Dysostoses, Mandibulofacial TCOF1 disease C0242387 CausalMutation 1 orphanet , disgenet
Dysostoses, Mandibulofacial TCOF1 disease C0242387 GeneticVariation 1 orphanet , disgenet
Dysostoses, Mandibulofacial POLR1C disease C0242387 GeneticVariation 0.5 orphanet , disgenet
Dysostoses, Mandibulofacial POLR1C disease C0242387 Biomarker 0.5 orphanet , disgenet
Dysostoses, Mandibulofacial EDNRA disease C0242387 Biomarker 0.4 orphanet , disgenet
Dysostoses, Mandibulofacial POLR1D disease C0242387 GeneticVariation 0.38 orphanet , disgenet
Dysostoses, Mandibulofacial POLR1D disease C0242387 Biomarker 0.38 orphanet , disgenet
Dysostoses, Mandibulofacial EFTUD2 disease C0242387 GeneticVariation 0.15 orphanet , disgenet
Dysostoses, Mandibulofacial EFTUD2 disease C0242387 Biomarker 0.15 orphanet , disgenet
Dysostoses, Mandibulofacial TP53 disease C0242387 Biomarker 0.06 disgenet
Dysostoses, Mandibulofacial TP53 disease C0242387 AlteredExpression 0.06 disgenet
Dysostoses, Mandibulofacial SPARC disease C0242387 GeneticVariation 0.05 disgenet
Dysostoses, Mandibulofacial NDST1 disease C0242387 Biomarker 0.02 disgenet
Dysostoses, Mandibulofacial PITX1 disease C0242387 AlteredExpression 0.01 disgenet
Dysostoses, Mandibulofacial ERGIC2 disease C0242387 AlteredExpression 0.01 disgenet
Dysostoses, Mandibulofacial TCEA1 disease C0242387 GeneticVariation 0.01 disgenet
Dysostoses, Mandibulofacial RPS14 disease C0242387 GeneticVariation 0.01 disgenet
Dysostoses, Mandibulofacial ANXA6 disease C0242387 Biomarker 0.01 disgenet
Dysostoses, Mandibulofacial PCNA disease C0242387 AlteredExpression 0.01 disgenet
Dysostoses, Mandibulofacial HOXD@ disease C0242387 GeneticVariation 0.01 disgenet
Dysostoses, Mandibulofacial WDR43 disease C0242387 Biomarker 0.01 disgenet
Dysostoses, Mandibulofacial IL1B disease C0242387 Biomarker 0.01 disgenet
Dysostoses, Mandibulofacial SLC6A7 disease C0242387 Biomarker 0.01 disgenet
Dysostoses, Mandibulofacial POLR1B disease C0242387 Biomarker 0.01 orphanet , disgenet
Dysostoses, Mandibulofacial NOG disease C0242387 Biomarker 0.01 disgenet
Dysostoses, Mandibulofacial COL11A2 disease C0242387 Biomarker 0.01 disgenet
Dysostoses, Mandibulofacial CUL3 disease C0242387 GeneticVariation 0.01 disgenet
Dysostoses, Mandibulofacial HFM disease C0242387 Biomarker 0.01 disgenet
Dysostoses, Mandibulofacial POLR1A disease C0242387 Biomarker 0.01 disgenet
Dysostoses, Mandibulofacial QDPR disease C0242387 GeneticVariation 0.01 disgenet
Dysostoses, Mandibulofacial TNF disease C0242387 AlteredExpression 0.01 disgenet
Dysostoses, Mandibulofacial NOLC1 disease C0242387 GeneticVariation 0.01 disgenet
Dysostoses, Mandibulofacial IL1A disease C0242387 Biomarker 0.01 disgenet
Dysostoses, Mandibulofacial CAMK2A disease C0242387 GeneticVariation 0.01 disgenet
Dysostoses, Mandibulofacial PRDX2 disease C0242387 AlteredExpression 0.01 disgenet
Dysostoses, Mandibulofacial HIF1A disease C0242387 Biomarker 0.01 disgenet
Dysostoses, Mandibulofacial CSNK2A1 disease C0242387 PosttranslationalModification 0.01 disgenet
Dysostoses, Mandibulofacial CRP disease C0242387 AlteredExpression 0.01 disgenet
Dysostoses, Mandibulofacial FGFR4 disease C0242387 Biomarker 0.01 disgenet
Dysostoses, Mandibulofacial RPS19 disease C0242387 Biomarker 0.01 disgenet
Dysostoses, Mandibulofacial CNBP disease C0242387 AlteredExpression 0.01 disgenet
Dysostoses, Mandibulofacial CHD7 disease C0242387 Biomarker 0.01 disgenet
Dysostoses, Mandibulofacial DDX21 disease C0242387 Biomarker 0.01 disgenet
Dysostoses, Mandibulofacial NR3C1 disease C0242387 GeneticVariation 0.01 disgenet
Dysostoses, Mandibulofacial PARP1 disease C0242387 Biomarker 0.01 disgenet
Dysostoses, Mandibulofacial KBTBD8 disease C0242387 GeneticVariation 0.01 disgenet
Dysostoses, Mandibulofacial IL13 disease C0242387 Biomarker 0.01 disgenet
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