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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