| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Carnitine palmitoyl transferase 1A deficiency | CPT1A | disease | C1829703 | CausalMutation | 0.9 | orphanet , disgenet |
| Carnitine palmitoyl transferase 1A deficiency | CPT1A | disease | C1829703 | Biomarker | 0.9 | orphanet , disgenet |
| Carnitine palmitoyl transferase 1A deficiency | CPT1A | disease | C1829703 | GeneticVariation | 0.9 | orphanet , disgenet |
| Carnitine palmitoyl transferase 1A deficiency | CPT2 | disease | C1829703 | Biomarker | 0.01 | disgenet |
| Carnitine palmitoyl transferase 1A deficiency | DHDDS | disease | C1829703 | GeneticVariation | 0.01 | disgenet |
| Carnitine palmitoyl transferase 1A deficiency | CHPT1 | disease | C1829703 | GeneticVariation | 0.01 | disgenet |
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