Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency | MMUT | disease | C1855114 | GeneticVariation | 0.9 | disgenet |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency | MMUT | disease | C1855114 | CausalMutation | 0.9 | disgenet |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency | MMUT | disease | C1855114 | Biomarker | 0.9 | disgenet |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency | MMACHC | disease | C1855114 | CausalMutation | 0.1 | disgenet |
Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency | MAN2B1 | disease | C1855114 | CausalMutation | 0.1 | disgenet |
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