| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Axenfeld-Rieger Anomaly | COL4A1 | disease | C0266548 | Biomarker | 0.51 | disgenet |
| Axenfeld-Rieger Anomaly | COL4A1 | disease | C0266548 | GeneticVariation | 0.51 | disgenet |
| Axenfeld-Rieger Anomaly | FOXC1 | disease | C0266548 | Biomarker | 0.48 | orphanet , disgenet |
| Axenfeld-Rieger Anomaly | FOXC1 | disease | C0266548 | GermlineCausalMutation | 0.48 | orphanet , disgenet |
| Axenfeld-Rieger Anomaly | FOXC1 | disease | C0266548 | CausalMutation | 0.48 | orphanet , disgenet |
| Axenfeld-Rieger Anomaly | FOXC1 | disease | C0266548 | GeneticVariation | 0.48 | orphanet , disgenet |
| Axenfeld-Rieger Anomaly | PITX2 | disease | C0266548 | GeneticVariation | 0.33 | orphanet , disgenet |
| Axenfeld-Rieger Anomaly | PITX2 | disease | C0266548 | Biomarker | 0.33 | orphanet , disgenet |
| Axenfeld-Rieger Anomaly | PITX2 | disease | C0266548 | GermlineCausalMutation | 0.33 | orphanet , disgenet |
| Axenfeld-Rieger Anomaly | JAG1 | disease | C0266548 | Biomarker | 0.1 | disgenet |
| Axenfeld-Rieger Anomaly | PTPN11 | disease | C0266548 | GeneticVariation | 0.01 | disgenet |
| Axenfeld-Rieger Anomaly | FGFR2 | disease | C0266548 | GeneticVariation | 0.01 | disgenet |
| Axenfeld-Rieger Anomaly | FOXC2 | disease | C0266548 | GeneticVariation | 0.01 | disgenet |
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