Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Seckel syndrome 2 | RBBP8 | disease | C1847572 | CausalMutation | 0.7 | disgenet |
Seckel syndrome 2 | RBBP8 | disease | C1847572 | Biomarker | 0.7 | disgenet |
Seckel syndrome 2 | RBBP8 | disease | C1847572 | GeneticVariation | 0.7 | disgenet |
Seckel syndrome 2 | PCNT | disease | C1847572 | Biomarker | 0.3 | disgenet |
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