| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Blepharophimosis syndrome Ohdo type | MED12 | disease | C0796094 | Biomarker | 0.32 | disgenet |
| Blepharophimosis syndrome Ohdo type | MED12 | disease | C0796094 | GeneticVariation | 0.32 | disgenet |
| Blepharophimosis syndrome Ohdo type | KAT6B | disease | C0796094 | GeneticVariation | 0.05 | disgenet |
| Blepharophimosis syndrome Ohdo type | KIFBP | disease | C0796094 | Biomarker | 0.01 | disgenet |
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