| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Waardenburg syndrome type 2A | MITF | disease | C1860339 | CausalMutation | 1 | disgenet |
| Waardenburg syndrome type 2A | MITF | disease | C1860339 | GeneticVariation | 1 | disgenet |
| Waardenburg syndrome type 2A | MITF | disease | C1860339 | Biomarker | 1 | disgenet |
| Waardenburg syndrome type 2A | SOX10 | disease | C1860339 | GeneticVariation | 0.14 | disgenet |
| Waardenburg syndrome type 2A | POLR2F | disease | C1860339 | GeneticVariation | 0.1 | disgenet |
| Waardenburg syndrome type 2A | CISD2 | disease | C1860339 | Biomarker | 0.03 | disgenet |
| Waardenburg syndrome type 2A | CISD2 | disease | C1860339 | GeneticVariation | 0.03 | disgenet |
| Waardenburg syndrome type 2A | KITLG | disease | C1860339 | Biomarker | 0.01 | disgenet |
| Waardenburg syndrome type 2A | PAX3 | disease | C1860339 | GeneticVariation | 0.01 | disgenet |
| Waardenburg syndrome type 2A | GJB2 | disease | C1860339 | GeneticVariation | 0.01 | disgenet |
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