Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Opitz-Kaveggia syndrome MED12 disease C0220769 CausalMutation 0.8 orphanet , disgenet
Opitz-Kaveggia syndrome MED12 disease C0220769 GermlineCausalMutation 0.8 orphanet , disgenet
Opitz-Kaveggia syndrome MED12 disease C0220769 Biomarker 0.8 orphanet , disgenet
Opitz-Kaveggia syndrome MED12 disease C0220769 GeneticVariation 0.8 orphanet , disgenet
Opitz-Kaveggia syndrome CASK disease C0220769 GeneticVariation 0.33 orphanet , disgenet
Opitz-Kaveggia syndrome CASK disease C0220769 Biomarker 0.33 orphanet , disgenet
Opitz-Kaveggia syndrome FLNA disease C0220769 Biomarker 0.31 orphanet , disgenet
Opitz-Kaveggia syndrome FGS2 disease C0220769 Biomarker 0.04 disgenet
Opitz-Kaveggia syndrome FGS2 disease C0220769 GeneticVariation 0.04 disgenet
Opitz-Kaveggia syndrome IGAN1 disease C0220769 GeneticVariation 0.01 disgenet
Opitz-Kaveggia syndrome GLI3 disease C0220769 Biomarker 0.01 disgenet
Opitz-Kaveggia syndrome VSX1 disease C0220769 GeneticVariation 0.01 disgenet
Opitz-Kaveggia syndrome FGS3 disease C0220769 GeneticVariation 0.01 disgenet
Opitz-Kaveggia syndrome OBP2A disease C0220769 Biomarker 0.01 disgenet
Opitz-Kaveggia syndrome KIF22 disease C0220769 Biomarker 0.01 disgenet
Opitz-Kaveggia syndrome IGBP1 disease C0220769 GeneticVariation 0.01 disgenet
Opitz-Kaveggia syndrome HPD disease C0220769 GeneticVariation 0.01 disgenet
Opitz-Kaveggia syndrome RCOR1 disease C0220769 Biomarker 0.01 disgenet
Opitz-Kaveggia syndrome MID2 disease C0220769 Biomarker 0.01 disgenet
Opitz-Kaveggia syndrome AGO2 disease C0220769 GeneticVariation 0.01 disgenet
Opitz-Kaveggia syndrome CCN6 disease C0220769 GeneticVariation 0.01 disgenet
Opitz-Kaveggia syndrome FGS5 disease C0220769 Biomarker 0.01 disgenet
Opitz-Kaveggia syndrome FMR1 disease C0220769 GeneticVariation 0.01 disgenet
Opitz-Kaveggia syndrome HTC2 disease C0220769 GeneticVariation 0.01 disgenet
Opitz-Kaveggia syndrome BRWD3 NA C0220769 NA NA orphanet
Opitz-Kaveggia syndrome UPF3B NA C0220769 NA NA orphanet
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