| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Pyruvate Dehydrogenase E1 Alpha Deficiency | PDHA1 | disease | C1839413 | GeneticVariation | 0.7 | orphanet , disgenet |
| Pyruvate Dehydrogenase E1 Alpha Deficiency | PDHA1 | disease | C1839413 | GermlineCausalMutation | 0.7 | orphanet , disgenet |
| Pyruvate Dehydrogenase E1 Alpha Deficiency | PDHA1 | disease | C1839413 | CausalMutation | 0.7 | orphanet , disgenet |
| Pyruvate Dehydrogenase E1 Alpha Deficiency | PDHA1 | disease | C1839413 | Biomarker | 0.7 | orphanet , disgenet |
| Pyruvate Dehydrogenase E1 Alpha Deficiency | LONP1 | disease | C1839413 | GermlineCausalMutation | 0.3 | orphanet , disgenet |
| Pyruvate Dehydrogenase E1 Alpha Deficiency | PDHX | disease | C1839413 | GeneticVariation | 0.1 | disgenet |
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