| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Porphyria, Erythropoietic | UROS | disease | C0162530 | GeneticVariation | 1 | orphanet , disgenet |
| Porphyria, Erythropoietic | UROS | disease | C0162530 | AlteredExpression | 1 | orphanet , disgenet |
| Porphyria, Erythropoietic | UROS | disease | C0162530 | Biomarker | 1 | orphanet , disgenet |
| Porphyria, Erythropoietic | UROS | disease | C0162530 | CausalMutation | 1 | orphanet , disgenet |
| Porphyria, Erythropoietic | GATA1 | disease | C0162530 | GermlineCausalMutation | 0.55 | orphanet , disgenet |
| Porphyria, Erythropoietic | GATA1 | disease | C0162530 | GeneticVariation | 0.55 | orphanet , disgenet |
| Porphyria, Erythropoietic | GATA1 | disease | C0162530 | Biomarker | 0.55 | orphanet , disgenet |
| Porphyria, Erythropoietic | ALAS2 | disease | C0162530 | GeneticVariation | 0.05 | disgenet |
| Porphyria, Erythropoietic | ALAS2 | disease | C0162530 | Biomarker | 0.05 | disgenet |
| Porphyria, Erythropoietic | FECH | disease | C0162530 | Biomarker | 0.03 | disgenet |
| Porphyria, Erythropoietic | FECH | disease | C0162530 | GeneticVariation | 0.03 | disgenet |
| Porphyria, Erythropoietic | PARP9 | disease | C0162530 | AlteredExpression | 0.02 | disgenet |
| Porphyria, Erythropoietic | SLC27A5 | disease | C0162530 | Biomarker | 0.02 | disgenet |
| Porphyria, Erythropoietic | SLC27A5 | disease | C0162530 | AlteredExpression | 0.02 | disgenet |
| Porphyria, Erythropoietic | HAMP | disease | C0162530 | AlteredExpression | 0.02 | disgenet |
| Porphyria, Erythropoietic | CEL | disease | C0162530 | Biomarker | 0.02 | disgenet |
| Porphyria, Erythropoietic | IL33 | disease | C0162530 | Biomarker | 0.02 | disgenet |
| Porphyria, Erythropoietic | CEL | disease | C0162530 | AlteredExpression | 0.02 | disgenet |
| Porphyria, Erythropoietic | IL5 | disease | C0162530 | Biomarker | 0.02 | disgenet |
| Porphyria, Erythropoietic | HAMP | disease | C0162530 | Biomarker | 0.02 | disgenet |
| Porphyria, Erythropoietic | PARP9 | disease | C0162530 | Biomarker | 0.02 | disgenet |
| Porphyria, Erythropoietic | TSLP | disease | C0162530 | Biomarker | 0.01 | disgenet |
| Porphyria, Erythropoietic | FUT1 | disease | C0162530 | Biomarker | 0.01 | disgenet |
| Porphyria, Erythropoietic | MYDGF | disease | C0162530 | Biomarker | 0.01 | disgenet |
| Porphyria, Erythropoietic | ALAS1 | disease | C0162530 | Biomarker | 0.01 | disgenet |
| Porphyria, Erythropoietic | AFP | disease | C0162530 | Biomarker | 0.01 | disgenet |
| Porphyria, Erythropoietic | LGMN | disease | C0162530 | GeneticVariation | 0.01 | disgenet |
| Porphyria, Erythropoietic | CD34 | disease | C0162530 | Biomarker | 0.01 | disgenet |
| Porphyria, Erythropoietic | IL25 | disease | C0162530 | Biomarker | 0.01 | disgenet |
| Porphyria, Erythropoietic | POSTN | disease | C0162530 | Biomarker | 0.01 | disgenet |
| Porphyria, Erythropoietic | HMBS | disease | C0162530 | GeneticVariation | 0.01 | disgenet |
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