| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Alpha-ketoglutarate dehydrogenase deficiency | OGDH | disease | C2752074 | GeneticVariation | 0.6 | orphanet , disgenet |
| Alpha-ketoglutarate dehydrogenase deficiency | OGDH | disease | C2752074 | Biomarker | 0.6 | orphanet , disgenet |
| Alpha-ketoglutarate dehydrogenase deficiency | SMARCB1 | disease | C2752074 | GeneticVariation | 0.01 | disgenet |
| Alpha-ketoglutarate dehydrogenase deficiency | FGFR1 | disease | C2752074 | GeneticVariation | 0.01 | disgenet |
| Alpha-ketoglutarate dehydrogenase deficiency | DLD | disease | C2752074 | GeneticVariation | 0.01 | disgenet |
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