| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Poikiloderma with Neutropenia | USB1 | disease | C1858723 | Biomarker | 0.8 | orphanet , disgenet |
| Poikiloderma with Neutropenia | USB1 | disease | C1858723 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Poikiloderma with Neutropenia | USB1 | disease | C1858723 | CausalMutation | 0.8 | orphanet , disgenet |
| Poikiloderma with Neutropenia | USB1 | disease | C1858723 | GeneticVariation | 0.8 | orphanet , disgenet |
| Poikiloderma with Neutropenia | VEGFC | disease | C1858723 | AlteredExpression | 0.01 | disgenet |
| Poikiloderma with Neutropenia | RECQL4 | disease | C1858723 | Biomarker | 0.01 | disgenet |
| Poikiloderma with Neutropenia | KCNMA1 | disease | C1858723 | GeneticVariation | 0.01 | disgenet |
| Poikiloderma with Neutropenia | HMGCR | disease | C1858723 | AlteredExpression | 0.01 | disgenet |
| Poikiloderma with Neutropenia | GRHL2 | disease | C1858723 | GeneticVariation | 0.01 | disgenet |
| Poikiloderma with Neutropenia | ASCL1 | disease | C1858723 | Biomarker | 0.01 | disgenet |
| Poikiloderma with Neutropenia | FLT4 | disease | C1858723 | Biomarker | 0.01 | disgenet |
| Poikiloderma with Neutropenia | KLK3 | disease | C1858723 | Biomarker | 0.01 | disgenet |
| Poikiloderma with Neutropenia | MAG | disease | C1858723 | Biomarker | 0.01 | disgenet |
| Poikiloderma with Neutropenia | NFATC1 | disease | C1858723 | AlteredExpression | 0.01 | disgenet |
| Poikiloderma with Neutropenia | GPX3 | disease | C1858723 | Biomarker | 0.01 | disgenet |
| Poikiloderma with Neutropenia | CD274 | disease | C1858723 | AlteredExpression | 0.01 | disgenet |
| Poikiloderma with Neutropenia | NDRG1 | disease | C1858723 | AlteredExpression | 0.01 | disgenet |
| Poikiloderma with Neutropenia | GPX1 | disease | C1858723 | Biomarker | 0.01 | disgenet |
| Poikiloderma with Neutropenia | C20orf181 | disease | C1858723 | Biomarker | 0.01 | disgenet |
| Poikiloderma with Neutropenia | COL14A1 | disease | C1858723 | Biomarker | 0.01 | disgenet |
| Poikiloderma with Neutropenia | TRAP | disease | C1858723 | Biomarker | 0.01 | disgenet |
| Poikiloderma with Neutropenia | PLCB1 | disease | C1858723 | AlteredExpression | 0.01 | disgenet |
| Poikiloderma with Neutropenia | GABARAPL1 | disease | C1858723 | AlteredExpression | 0.01 | disgenet |
| Poikiloderma with Neutropenia | MECP2 | disease | C1858723 | Biomarker | 0.01 | disgenet |
| Poikiloderma with Neutropenia | MYCN | disease | C1858723 | AlteredExpression | 0.01 | disgenet |
| Poikiloderma with Neutropenia | ENOSF1 | disease | C1858723 | Biomarker | 0.01 | disgenet |
| Poikiloderma with Neutropenia | GH1 | disease | C1858723 | Biomarker | 0.01 | disgenet |
| Poikiloderma with Neutropenia | PHGR1 | disease | C1858723 | AlteredExpression | 0.01 | disgenet |
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