Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Dimauro disease | PGAM2 | disease | C0268149 | CausalMutation | 0.73 | orphanet , disgenet |
Dimauro disease | PGAM2 | disease | C0268149 | Biomarker | 0.73 | orphanet , disgenet |
Dimauro disease | PGAM2 | disease | C0268149 | GeneticVariation | 0.73 | orphanet , disgenet |
Dimauro disease | PGAM2 | disease | C0268149 | GermlineCausalMutation | 0.73 | orphanet , disgenet |
Dimauro disease | DBNL | disease | C0268149 | GeneticVariation | 0.1 | disgenet |
Dimauro disease | DBNL | disease | C0268149 | CausalMutation | 0.1 | disgenet |
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