| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| HHH syndrome | SLC25A15 | disease | C0268540 | Biomarker | 0.8 | orphanet , disgenet |
| HHH syndrome | SLC25A15 | disease | C0268540 | GeneticVariation | 0.8 | orphanet , disgenet |
| HHH syndrome | SLC25A15 | disease | C0268540 | CausalMutation | 0.8 | orphanet , disgenet |
| HHH syndrome | SLC25A15 | disease | C0268540 | AlteredExpression | 0.8 | orphanet , disgenet |
| HHH syndrome | CPS1 | disease | C0268540 | GeneticVariation | 0.03 | disgenet |
| HHH syndrome | CPS1 | disease | C0268540 | Biomarker | 0.03 | disgenet |
| HHH syndrome | SLC25A2 | disease | C0268540 | GeneticVariation | 0.02 | disgenet |
| HHH syndrome | SLC25A2 | disease | C0268540 | Biomarker | 0.02 | disgenet |
| HHH syndrome | ALDH18A1 | disease | C0268540 | Biomarker | 0.01 | disgenet |
| HHH syndrome | SLC25A29 | disease | C0268540 | Biomarker | 0.01 | disgenet |
| HHH syndrome | OAT | disease | C0268540 | Biomarker | 0.01 | disgenet |
| HHH syndrome | ORC1 | disease | C0268540 | GeneticVariation | 0.01 | disgenet |
| HHH syndrome | AFP | disease | C0268540 | Biomarker | 0.01 | disgenet |
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