Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Oculomelic amyoplasia PIEZO2 disease C1862472 Biomarker 0.75 disgenet
Oculomelic amyoplasia PIEZO2 disease C1862472 GermlineCausalMutation 0.75 disgenet
Oculomelic amyoplasia PIEZO2 disease C1862472 GeneticVariation 0.75 disgenet
Oculomelic amyoplasia PIEZO2 disease C1862472 CausalMutation 0.75 disgenet
Oculomelic amyoplasia ECEL1 disease C1862472 Biomarker 0.21 disgenet
Oculomelic amyoplasia ECEL1 disease C1862472 GeneticVariation 0.21 disgenet
Oculomelic amyoplasia TNNI2 disease C1862472 Biomarker 0.2 disgenet
Oculomelic amyoplasia FBN2 disease C1862472 Biomarker 0.2 disgenet
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