| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Oculomaxillofacial dysostosis | SPECC1L | disease | C1838348 | Biomarker | 0.72 | disgenet |
| Oculomaxillofacial dysostosis | SPECC1L | disease | C1838348 | GeneticVariation | 0.72 | disgenet |
| Oculomaxillofacial dysostosis | SPECC1L | disease | C1838348 | GermlineCausalMutation | 0.72 | disgenet |
| Oculomaxillofacial dysostosis | SPECC1L | disease | C1838348 | CausalMutation | 0.72 | disgenet |
| Oculomaxillofacial dysostosis | SPECC1L-ADORA2A | disease | C1838348 | CausalMutation | 0.1 | disgenet |
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