| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Orofaciodigital syndrome type1 | OFD1 | disease | C2931426 | Biomarker | 0.36 | disgenet |
| Orofaciodigital syndrome type1 | OFD1 | disease | C2931426 | GeneticVariation | 0.36 | disgenet |
| Orofaciodigital syndrome type1 | CDKL5 | disease | C2931426 | GeneticVariation | 0.01 | disgenet |
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