Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Langer mesomelic dysplasia SHOX disease C0432230 GermlineCausalMutation 0.8 orphanet , disgenet
Langer mesomelic dysplasia SHOX disease C0432230 CausalMutation 0.8 orphanet , disgenet
Langer mesomelic dysplasia SHOX disease C0432230 GeneticVariation 0.8 orphanet , disgenet
Langer mesomelic dysplasia SHOX disease C0432230 Biomarker 0.8 orphanet , disgenet
Langer mesomelic dysplasia EGFR disease C0432230 GeneticVariation 0.02 disgenet
Langer mesomelic dysplasia EGFR disease C0432230 Biomarker 0.02 disgenet
Langer mesomelic dysplasia F2R disease C0432230 GeneticVariation 0.02 disgenet
Langer mesomelic dysplasia NR1I2 disease C0432230 GeneticVariation 0.02 disgenet
Langer mesomelic dysplasia PWAR1 disease C0432230 GeneticVariation 0.02 disgenet
Langer mesomelic dysplasia SLC52A2 disease C0432230 GeneticVariation 0.02 disgenet
Langer mesomelic dysplasia TAS2R31 disease C0432230 GeneticVariation 0.01 disgenet
Langer mesomelic dysplasia SHOX2 disease C0432230 GeneticVariation 0.01 disgenet
Langer mesomelic dysplasia GH1 disease C0432230 GeneticVariation 0.01 disgenet
Langer mesomelic dysplasia LOC100996724 disease C0432230 GeneticVariation 0.01 disgenet
Langer mesomelic dysplasia PDE4DIP disease C0432230 GeneticVariation 0.01 disgenet
Langer mesomelic dysplasia KRAS disease C0432230 Biomarker 0.01 disgenet
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