| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Methylmalonic acidemia with homocystinuria | MMACHC | disease | C1848561 | Biomarker | 0.95 | orphanet , disgenet |
| Methylmalonic acidemia with homocystinuria | MMACHC | disease | C1848561 | CausalMutation | 0.95 | orphanet , disgenet |
| Methylmalonic acidemia with homocystinuria | MMACHC | disease | C1848561 | GermlineCausalMutation | 0.95 | orphanet , disgenet |
| Methylmalonic acidemia with homocystinuria | MMACHC | disease | C1848561 | GeneticVariation | 0.95 | orphanet , disgenet |
| Methylmalonic acidemia with homocystinuria | PRDX1 | disease | C1848561 | Biomarker | 0.3 | disgenet |
| Methylmalonic acidemia with homocystinuria | MMADHC | NA | C1848561 | NA | NA | orphanet |
| Methylmalonic acidemia with homocystinuria | ABCD4 | NA | C1848561 | NA | NA | orphanet |
| Methylmalonic acidemia with homocystinuria | HCFC1 | NA | C1848561 | NA | NA | orphanet |
| Methylmalonic acidemia with homocystinuria | LMBRD1 | NA | C1848561 | NA | NA | orphanet |
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