Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Spondylocostal dysostosis, autosomal recessive MESP2 disease C1837549 Biomarker 0.6 orphanet , disgenet
Spondylocostal dysostosis, autosomal recessive MESP2 disease C1837549 GeneticVariation 0.6 orphanet , disgenet
Spondylocostal dysostosis, autosomal recessive MESP2 disease C1837549 CausalMutation 0.6 orphanet , disgenet
Spondylocostal dysostosis, autosomal recessive DLL3 disease C1837549 Biomarker 0.52 orphanet , disgenet
Spondylocostal dysostosis, autosomal recessive DLL3 disease C1837549 GeneticVariation 0.52 orphanet , disgenet
Spondylocostal dysostosis, autosomal recessive RIPPLY2 disease C1837549 Biomarker 0.5 orphanet , disgenet
Spondylocostal dysostosis, autosomal recessive HES7 disease C1837549 GeneticVariation 0.31 orphanet , disgenet
Spondylocostal dysostosis, autosomal recessive HES7 disease C1837549 Biomarker 0.31 orphanet , disgenet
Spondylocostal dysostosis, autosomal recessive LFNG disease C1837549 Biomarker 0.3 orphanet , disgenet
Spondylocostal dysostosis, autosomal recessive TBX6 disease C1837549 Biomarker 0.2 disgenet
Spondylocostal dysostosis, autosomal recessive JAG1 disease C1837549 Biomarker 0.01 disgenet
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