Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Combined Oxidative Phosphorylation Deficiency 2 | MRPS16 | disease | C1864843 | Biomarker | 0.7 | disgenet |
Combined Oxidative Phosphorylation Deficiency 2 | MRPS16 | disease | C1864843 | GermlineCausalMutation | 0.7 | disgenet |
Combined Oxidative Phosphorylation Deficiency 2 | MRPS16 | disease | C1864843 | CausalMutation | 0.7 | disgenet |
Combined Oxidative Phosphorylation Deficiency 2 | DNAJC9-AS1 | disease | C1864843 | CausalMutation | 0.1 | disgenet |
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