Disease Information
Disease Name Gene Name Type UMLS Association Type Score Source
Microcephaly with Mental Retardation and Digital Anomalies RBBP8 disease C0796063 CausalMutation 0.71 orphanet , disgenet
Microcephaly with Mental Retardation and Digital Anomalies RBBP8 disease C0796063 Biomarker 0.71 orphanet , disgenet
Microcephaly with Mental Retardation and Digital Anomalies RBBP8 disease C0796063 GermlineCausalMutation 0.71 orphanet , disgenet
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