| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Microphthalmia, Syndromic 3 | SOX2 | disease | C1859773 | GermlineCausalMutation | 0.75 | orphanet , disgenet |
| Microphthalmia, Syndromic 3 | SOX2 | disease | C1859773 | CausalMutation | 0.75 | orphanet , disgenet |
| Microphthalmia, Syndromic 3 | SOX2 | disease | C1859773 | Biomarker | 0.75 | orphanet , disgenet |
| Microphthalmia, Syndromic 3 | SOX2 | disease | C1859773 | GeneticVariation | 0.75 | orphanet , disgenet |
| Microphthalmia, Syndromic 3 | SIX6 | disease | C1859773 | Biomarker | 0.3 | disgenet |
| Microphthalmia, Syndromic 3 | SOX2-OT | disease | C1859773 | CausalMutation | 0.1 | disgenet |
| Microphthalmia, Syndromic 3 | OTX2 | disease | C1859773 | Biomarker | 0.01 | disgenet |
| Microphthalmia, Syndromic 3 | SRY | disease | C1859773 | Biomarker | 0.01 | disgenet |
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