Disease Information | ||||||
---|---|---|---|---|---|---|
Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
O'Donnell Pappas syndrome | PAX6 | disease | C2931644 | Biomarker | 0.6 | orphanet , disgenet |
O'Donnell Pappas syndrome | PAX6 | disease | C2931644 | GermlineCausalMutation | 0.6 | orphanet , disgenet |
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