| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| 3-methylcrotonyl CoA carboxylase 1 deficiency | MCCC1 | disease | C0268600 | CausalMutation | 0.73 | orphanet , disgenet |
| 3-methylcrotonyl CoA carboxylase 1 deficiency | MCCC1 | disease | C0268600 | Biomarker | 0.73 | orphanet , disgenet |
| 3-methylcrotonyl CoA carboxylase 1 deficiency | MCCC1 | disease | C0268600 | GeneticVariation | 0.73 | orphanet , disgenet |
| 3-methylcrotonyl CoA carboxylase 1 deficiency | MCCC1 | disease | C0268600 | GermlineCausalMutation | 0.73 | orphanet , disgenet |
| 3-methylcrotonyl CoA carboxylase 1 deficiency | MCCC2 | disease | C0268600 | GeneticVariation | 0.52 | orphanet , disgenet |
| 3-methylcrotonyl CoA carboxylase 1 deficiency | MCCC2 | disease | C0268600 | GermlineCausalMutation | 0.52 | orphanet , disgenet |
| 3-methylcrotonyl CoA carboxylase 1 deficiency | MCCC2 | disease | C0268600 | Biomarker | 0.52 | orphanet , disgenet |
| 3-methylcrotonyl CoA carboxylase 1 deficiency | PER2 | disease | C0268600 | GeneticVariation | 0.01 | disgenet |
| 3-methylcrotonyl CoA carboxylase 1 deficiency | MED17 | disease | C0268600 | GeneticVariation | 0.01 | disgenet |
| 3-methylcrotonyl CoA carboxylase 1 deficiency | MCC | disease | C0268600 | GeneticVariation | 0.01 | disgenet |
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