| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Poikiloderma of Kindler | FERMT1 | disease | C0406557 | Biomarker | 1 | disgenet |
| Poikiloderma of Kindler | FERMT1 | disease | C0406557 | GermlineCausalMutation | 1 | disgenet |
| Poikiloderma of Kindler | FERMT1 | disease | C0406557 | CausalMutation | 1 | disgenet |
| Poikiloderma of Kindler | FERMT1 | disease | C0406557 | AlteredExpression | 1 | disgenet |
| Poikiloderma of Kindler | FERMT1 | disease | C0406557 | GeneticVariation | 1 | disgenet |
| Poikiloderma of Kindler | ACTB | disease | C0406557 | GeneticVariation | 0.04 | disgenet |
| Poikiloderma of Kindler | ACTB | disease | C0406557 | Biomarker | 0.04 | disgenet |
| Poikiloderma of Kindler | FERMT2 | disease | C0406557 | GeneticVariation | 0.02 | disgenet |
| Poikiloderma of Kindler | FBLIM1 | disease | C0406557 | Biomarker | 0.02 | disgenet |
| Poikiloderma of Kindler | FBLIM1 | disease | C0406557 | AlteredExpression | 0.02 | disgenet |
| Poikiloderma of Kindler | FERMT2 | disease | C0406557 | AlteredExpression | 0.02 | disgenet |
| Poikiloderma of Kindler | RPE65 | disease | C0406557 | AlteredExpression | 0.01 | disgenet |
| Poikiloderma of Kindler | CDK1 | disease | C0406557 | Biomarker | 0.01 | disgenet |
| Poikiloderma of Kindler | UVRAG | disease | C0406557 | AlteredExpression | 0.01 | disgenet |
| Poikiloderma of Kindler | H3P10 | disease | C0406557 | AlteredExpression | 0.01 | disgenet |
| Poikiloderma of Kindler | CDKN2A | disease | C0406557 | AlteredExpression | 0.01 | disgenet |
| Poikiloderma of Kindler | PLEK | disease | C0406557 | Biomarker | 0.01 | disgenet |
| Poikiloderma of Kindler | CKAP4 | disease | C0406557 | AlteredExpression | 0.01 | disgenet |
| Poikiloderma of Kindler | MAPK8 | disease | C0406557 | Biomarker | 0.01 | disgenet |
| Poikiloderma of Kindler | PXN | disease | C0406557 | Biomarker | 0.01 | disgenet |
| Poikiloderma of Kindler | KRT5 | disease | C0406557 | Biomarker | 0.01 | disgenet |
| Poikiloderma of Kindler | TP63 | disease | C0406557 | AlteredExpression | 0.01 | disgenet |
| Poikiloderma of Kindler | COL7A1 | disease | C0406557 | GeneticVariation | 0.01 | disgenet |
| Poikiloderma of Kindler | CDK2 | disease | C0406557 | Biomarker | 0.01 | disgenet |
| Poikiloderma of Kindler | BMI1 | disease | C0406557 | AlteredExpression | 0.01 | disgenet |
| Poikiloderma of Kindler | COMMD3-BMI1 | disease | C0406557 | AlteredExpression | 0.01 | disgenet |
| Poikiloderma of Kindler | FERMT3 | disease | C0406557 | GeneticVariation | 0.01 | disgenet |
| Poikiloderma of Kindler | XPC | disease | C0406557 | Biomarker | 0.01 | disgenet |
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