| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Porphyria, Acute Hepatic | ALAD | disease | C0268328 | GermlineCausalMutation | 0.73 | orphanet , disgenet |
| Porphyria, Acute Hepatic | ALAD | disease | C0268328 | Biomarker | 0.73 | orphanet , disgenet |
| Porphyria, Acute Hepatic | ALAD | disease | C0268328 | CausalMutation | 0.73 | orphanet , disgenet |
| Porphyria, Acute Hepatic | ALAD | disease | C0268328 | GeneticVariation | 0.73 | orphanet , disgenet |
| Porphyria, Acute Hepatic | PPOX | disease | C0268328 | Biomarker | 0.03 | disgenet |
| Porphyria, Acute Hepatic | CPOX | disease | C0268328 | AlteredExpression | 0.02 | disgenet |
| Porphyria, Acute Hepatic | CPOX | disease | C0268328 | GeneticVariation | 0.02 | disgenet |
| Porphyria, Acute Hepatic | SLCO6A1 | disease | C0268328 | Biomarker | 0.01 | disgenet |
| Porphyria, Acute Hepatic | HMBS | disease | C0268328 | Biomarker | 0.01 | disgenet |
| Porphyria, Acute Hepatic | GSTK1 | disease | C0268328 | Biomarker | 0.01 | disgenet |
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