| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Otofaciocervical Syndrome | EYA1 | disease | C1833691 | GeneticVariation | 0.62 | orphanet , disgenet |
| Otofaciocervical Syndrome | EYA1 | disease | C1833691 | Biomarker | 0.62 | orphanet , disgenet |
| Otofaciocervical Syndrome | EYA1 | disease | C1833691 | GermlineCausalMutation | 0.62 | orphanet , disgenet |
| Otofaciocervical Syndrome | PAX1 | disease | C1833691 | GeneticVariation | 0.53 | orphanet , disgenet |
| Otofaciocervical Syndrome | PAX1 | disease | C1833691 | Biomarker | 0.53 | orphanet , disgenet |
| Otofaciocervical Syndrome | PAX1 | disease | C1833691 | GermlineCausalMutation | 0.53 | orphanet , disgenet |
| Otofaciocervical Syndrome | EYA4 | disease | C1833691 | GeneticVariation | 0.01 | disgenet |
| Otofaciocervical Syndrome | DACH1 | disease | C1833691 | Biomarker | 0.01 | disgenet |
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