| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Hepatoerythropoietic Porphyria | UROD | disease | C0162569 | GeneticVariation | 0.5 | orphanet , disgenet |
| Hepatoerythropoietic Porphyria | UROD | disease | C0162569 | AlteredExpression | 0.5 | orphanet , disgenet |
| Hepatoerythropoietic Porphyria | UROD | disease | C0162569 | CausalMutation | 0.5 | orphanet , disgenet |
| Hepatoerythropoietic Porphyria | UROD | disease | C0162569 | Biomarker | 0.5 | orphanet , disgenet |
| Hepatoerythropoietic Porphyria | UROD | disease | C0162569 | GermlineCausalMutation | 0.5 | orphanet , disgenet |
| Hepatoerythropoietic Porphyria | HPSE | disease | C0162569 | AlteredExpression | 0.02 | disgenet |
| Hepatoerythropoietic Porphyria | C20orf181 | disease | C0162569 | Biomarker | 0.01 | disgenet |
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