| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Acidemia, methylmalonic | MMUT | phenotype | C0268583 | AlteredExpression | 0.5 | orphanet , disgenet |
| Acidemia, methylmalonic | MMUT | phenotype | C0268583 | Biomarker | 0.5 | orphanet , disgenet |
| Acidemia, methylmalonic | MMUT | phenotype | C0268583 | GeneticVariation | 0.5 | orphanet , disgenet |
| Acidemia, methylmalonic | MMUT | phenotype | C0268583 | CausalMutation | 0.5 | orphanet , disgenet |
| Acidemia, methylmalonic | ACSF3 | phenotype | C0268583 | Biomarker | 0.4 | orphanet , disgenet |
| Acidemia, methylmalonic | CRABP2 | phenotype | C0268583 | Biomarker | 0.3 | disgenet |
| Acidemia, methylmalonic | CAVIN1 | phenotype | C0268583 | Biomarker | 0.3 | disgenet |
| Acidemia, methylmalonic | SEPTIN11 | phenotype | C0268583 | Biomarker | 0.3 | disgenet |
| Acidemia, methylmalonic | CYCS | phenotype | C0268583 | Biomarker | 0.3 | disgenet |
| Acidemia, methylmalonic | SUCLG2 | phenotype | C0268583 | Biomarker | 0.3 | disgenet |
| Acidemia, methylmalonic | GPD2 | phenotype | C0268583 | Biomarker | 0.3 | disgenet |
| Acidemia, methylmalonic | SEPTIN2 | phenotype | C0268583 | Biomarker | 0.3 | disgenet |
| Acidemia, methylmalonic | SOD2 | phenotype | C0268583 | Biomarker | 0.3 | disgenet |
| Acidemia, methylmalonic | MMACHC | phenotype | C0268583 | GeneticVariation | 0.17 | disgenet |
| Acidemia, methylmalonic | MMACHC | phenotype | C0268583 | Biomarker | 0.17 | disgenet |
| Acidemia, methylmalonic | MCEE | phenotype | C0268583 | GeneticVariation | 0.16 | disgenet |
| Acidemia, methylmalonic | MCEE | phenotype | C0268583 | Biomarker | 0.16 | disgenet |
| Acidemia, methylmalonic | SUCLA2 | phenotype | C0268583 | GeneticVariation | 0.15 | orphanet , disgenet |
| Acidemia, methylmalonic | SUCLA2 | phenotype | C0268583 | Biomarker | 0.15 | orphanet , disgenet |
| Acidemia, methylmalonic | MMAB | phenotype | C0268583 | CausalMutation | 0.15 | disgenet |
| Acidemia, methylmalonic | MMAB | phenotype | C0268583 | Biomarker | 0.15 | disgenet |
| Acidemia, methylmalonic | MMAB | phenotype | C0268583 | GeneticVariation | 0.15 | disgenet |
| Acidemia, methylmalonic | MMAA | phenotype | C0268583 | GeneticVariation | 0.14 | disgenet |
| Acidemia, methylmalonic | MMAA | phenotype | C0268583 | CausalMutation | 0.14 | disgenet |
| Acidemia, methylmalonic | MMAA | phenotype | C0268583 | Biomarker | 0.14 | disgenet |
| Acidemia, methylmalonic | MMADHC | phenotype | C0268583 | GeneticVariation | 0.12 | orphanet , disgenet |
| Acidemia, methylmalonic | MMADHC | phenotype | C0268583 | Biomarker | 0.12 | orphanet , disgenet |
| Acidemia, methylmalonic | PRDX1 | phenotype | C0268583 | Biomarker | 0.1 | disgenet |
| Acidemia, methylmalonic | THAP11 | phenotype | C0268583 | GeneticVariation | 0.1 | disgenet |
| Acidemia, methylmalonic | ABCD4 | phenotype | C0268583 | Biomarker | 0.1 | disgenet |
| Acidemia, methylmalonic | CENPT | phenotype | C0268583 | GeneticVariation | 0.1 | disgenet |
| Acidemia, methylmalonic | LMBRD1 | phenotype | C0268583 | Biomarker | 0.1 | disgenet |
| Acidemia, methylmalonic | HCFC1 | phenotype | C0268583 | Biomarker | 0.1 | disgenet |
| Acidemia, methylmalonic | CCN6 | phenotype | C0268583 | Biomarker | 0.1 | disgenet |
| Acidemia, methylmalonic | SPR | phenotype | C0268583 | Biomarker | 0.01 | disgenet |
| Acidemia, methylmalonic | PIK3CA | phenotype | C0268583 | GeneticVariation | 0.01 | disgenet |
| Acidemia, methylmalonic | GNAO1 | phenotype | C0268583 | GeneticVariation | 0.01 | disgenet |
| Acidemia, methylmalonic | PART1 | phenotype | C0268583 | GeneticVariation | 0.01 | disgenet |
| Acidemia, methylmalonic | PAH | phenotype | C0268583 | GeneticVariation | 0.01 | disgenet |
| Acidemia, methylmalonic | TSC2 | phenotype | C0268583 | GeneticVariation | 0.01 | disgenet |
| Acidemia, methylmalonic | MIR9-1 | phenotype | C0268583 | Biomarker | 0.01 | disgenet |
| Acidemia, methylmalonic | TBX1 | phenotype | C0268583 | GeneticVariation | 0.01 | disgenet |
| Acidemia, methylmalonic | ALDH6A1 | phenotype | C0268583 | GeneticVariation | 0.01 | disgenet |
| Acidemia, methylmalonic | MVK | phenotype | C0268583 | Biomarker | 0.01 | disgenet |
| Acidemia, methylmalonic | CD320 | phenotype | C0268583 | GeneticVariation | 0.01 | orphanet , disgenet |
| Acidemia, methylmalonic | NAGS | phenotype | C0268583 | GeneticVariation | 0.01 | disgenet |
| Acidemia, methylmalonic | KCTD10 | phenotype | C0268583 | GeneticVariation | 0.01 | disgenet |
| Acidemia, methylmalonic | MMD | phenotype | C0268583 | GeneticVariation | 0.01 | disgenet |
| Acidemia, methylmalonic | MTHFR | phenotype | C0268583 | Biomarker | 0.01 | disgenet |
| Acidemia, methylmalonic | SLC22A5 | phenotype | C0268583 | GeneticVariation | 0.01 | disgenet |
| Acidemia, methylmalonic | MCCD1 | phenotype | C0268583 | Biomarker | 0.01 | disgenet |
| Acidemia, methylmalonic | MTR | phenotype | C0268583 | Biomarker | 0.01 | disgenet |
| Acidemia, methylmalonic | SUCLG1 | phenotype | C0268583 | GeneticVariation | 0.01 | orphanet , disgenet |
| Acidemia, methylmalonic | CDKL5 | phenotype | C0268583 | Biomarker | 0.01 | disgenet |
| Acidemia, methylmalonic | FGF21 | phenotype | C0268583 | Biomarker | 0.01 | disgenet |
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