Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations FBXL3 phenotype C1853507 GeneticVariation 0.6 disgenet
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations FBXL3 phenotype C1853507 Biomarker 0.6 disgenet
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations FBXL3 phenotype C1853507 CausalMutation 0.6 disgenet
Mental Retardation, Short Stature, Facial Anomalies, and Joint Dislocations CLN5 phenotype C1853507 CausalMutation 0.1 disgenet
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