Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Tibia, absence of GLI3 disease C0265633 GermlineCausalMutation 0.31 orphanet , disgenet
Tibia, absence of GLI3 disease C0265633 GeneticVariation 0.31 orphanet , disgenet
Tibia, absence of THMA disease C0265633 Biomarker 0.02 disgenet
Tibia, absence of UCN2 disease C0265633 Biomarker 0.01 disgenet
Tibia, absence of PITX1 disease C0265633 Biomarker 0.01 disgenet
Tibia, absence of SHH disease C0265633 GeneticVariation 0.01 orphanet , disgenet
Tibia, absence of GLI2 disease C0265633 GeneticVariation 0.01 disgenet
Tibia, absence of EXT1 disease C0265633 GeneticVariation 0.01 disgenet
Tibia, absence of LMBR1 NA C0265633 NA NA orphanet
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