Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Leri-Weil syndrome SHOX disease C0265309 AlteredExpression 0.8 disgenet
Leri-Weil syndrome SHOX disease C0265309 GeneticVariation 0.8 disgenet
Leri-Weil syndrome SHOX disease C0265309 CausalMutation 0.8 disgenet
Leri-Weil syndrome SHOX disease C0265309 Biomarker 0.8 disgenet
Leri-Weil syndrome SHOX disease C0265309 PosttranslationalModification 0.8 disgenet
Leri-Weil syndrome SHOX2 disease C0265309 Biomarker 0.22 disgenet
Leri-Weil syndrome SHOX2 disease C0265309 GeneticVariation 0.22 disgenet
Leri-Weil syndrome SLC52A2 disease C0265309 Biomarker 0.09 disgenet
Leri-Weil syndrome SLC52A2 disease C0265309 GeneticVariation 0.09 disgenet
Leri-Weil syndrome NR1I2 disease C0265309 GeneticVariation 0.09 disgenet
Leri-Weil syndrome PWAR1 disease C0265309 Biomarker 0.09 disgenet
Leri-Weil syndrome F2R disease C0265309 GeneticVariation 0.09 disgenet
Leri-Weil syndrome NR1I2 disease C0265309 Biomarker 0.09 disgenet
Leri-Weil syndrome F2R disease C0265309 Biomarker 0.09 disgenet
Leri-Weil syndrome PWAR1 disease C0265309 GeneticVariation 0.09 disgenet
Leri-Weil syndrome SRY disease C0265309 Biomarker 0.02 disgenet
Leri-Weil syndrome FGFR3 disease C0265309 GeneticVariation 0.02 disgenet
Leri-Weil syndrome FGFR3 disease C0265309 Biomarker 0.02 disgenet
Leri-Weil syndrome FOXD3 disease C0265309 Biomarker 0.01 disgenet
Leri-Weil syndrome NPR2 disease C0265309 GeneticVariation 0.01 disgenet
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