| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Fumarase deficiency | FH | disease | C0342770 | CausalMutation | 0.74 | disgenet |
| Fumarase deficiency | FH | disease | C0342770 | Biomarker | 0.74 | disgenet |
| Fumarase deficiency | FH | disease | C0342770 | GeneticVariation | 0.74 | disgenet |
| Fumarase deficiency | ACO2 | disease | C0342770 | Biomarker | 0.01 | disgenet |
| Fumarase deficiency | DHDDS | disease | C0342770 | Biomarker | 0.01 | disgenet |
| Fumarase deficiency | GPT | disease | C0342770 | Biomarker | 0.01 | disgenet |
| Fumarase deficiency | CHPT1 | disease | C0342770 | Biomarker | 0.01 | disgenet |
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