| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Polycythemia, primary familial and congenital | EPOR | disease | C0152264 | GermlineCausalMutation | 0.38 | orphanet , disgenet |
| Polycythemia, primary familial and congenital | EPOR | disease | C0152264 | GeneticVariation | 0.38 | orphanet , disgenet |
| Polycythemia, primary familial and congenital | EPOR | disease | C0152264 | Biomarker | 0.38 | orphanet , disgenet |
| Polycythemia, primary familial and congenital | EPO | disease | C0152264 | AlteredExpression | 0.1 | disgenet |
| Polycythemia, primary familial and congenital | EPO | disease | C0152264 | GeneticVariation | 0.1 | disgenet |
| Polycythemia, primary familial and congenital | EPO | disease | C0152264 | Biomarker | 0.1 | disgenet |
| Polycythemia, primary familial and congenital | EGLN1 | disease | C0152264 | GeneticVariation | 0.08 | disgenet |
| Polycythemia, primary familial and congenital | EGLN1 | disease | C0152264 | Biomarker | 0.08 | disgenet |
| Polycythemia, primary familial and congenital | JAK2 | disease | C0152264 | AlteredExpression | 0.04 | disgenet |
| Polycythemia, primary familial and congenital | EPAS1 | disease | C0152264 | GeneticVariation | 0.04 | disgenet |
| Polycythemia, primary familial and congenital | JAK2 | disease | C0152264 | GeneticVariation | 0.04 | disgenet |
| Polycythemia, primary familial and congenital | JAK2 | disease | C0152264 | Biomarker | 0.04 | disgenet |
| Polycythemia, primary familial and congenital | STAT5B | disease | C0152264 | AlteredExpression | 0.02 | disgenet |
| Polycythemia, primary familial and congenital | STAT5A | disease | C0152264 | Biomarker | 0.02 | disgenet |
| Polycythemia, primary familial and congenital | STAT5B | disease | C0152264 | Biomarker | 0.02 | disgenet |
| Polycythemia, primary familial and congenital | STAT5A | disease | C0152264 | AlteredExpression | 0.02 | disgenet |
| Polycythemia, primary familial and congenital | CD40 | disease | C0152264 | Biomarker | 0.01 | disgenet |
| Polycythemia, primary familial and congenital | HIF3A | disease | C0152264 | Biomarker | 0.01 | disgenet |
| Polycythemia, primary familial and congenital | NFKB1 | disease | C0152264 | Biomarker | 0.01 | disgenet |
| Polycythemia, primary familial and congenital | VHL | disease | C0152264 | GeneticVariation | 0.01 | disgenet |
| Polycythemia, primary familial and congenital | HBB | disease | C0152264 | GeneticVariation | 0.01 | disgenet |
| Polycythemia, primary familial and congenital | ASCC1 | disease | C0152264 | Biomarker | 0.01 | disgenet |
| Polycythemia, primary familial and congenital | HBG2 | disease | C0152264 | Biomarker | 0.01 | disgenet |
| Polycythemia, primary familial and congenital | HIF1A | disease | C0152264 | GeneticVariation | 0.01 | disgenet |
| Polycythemia, primary familial and congenital | H3P40 | disease | C0152264 | Biomarker | 0.01 | disgenet |
| Polycythemia, primary familial and congenital | ARHGEF7 | disease | C0152264 | Biomarker | 0.01 | disgenet |
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