Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Craniosynostosis radial aplasia syndrome RECQL4 disease C0265308 GeneticVariation 0.77 orphanet , disgenet
Craniosynostosis radial aplasia syndrome RECQL4 disease C0265308 CausalMutation 0.77 orphanet , disgenet
Craniosynostosis radial aplasia syndrome RECQL4 disease C0265308 GermlineCausalMutation 0.77 orphanet , disgenet
Craniosynostosis radial aplasia syndrome RECQL4 disease C0265308 Biomarker 0.77 orphanet , disgenet
Craniosynostosis radial aplasia syndrome TWIST1 disease C0265308 GeneticVariation 0.02 disgenet
Craniosynostosis radial aplasia syndrome TNF disease C0265308 Biomarker 0.01 disgenet
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