| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive | POLR1C | disease | C1855433 | CausalMutation | 0.72 | disgenet |
| Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive | POLR1C | disease | C1855433 | GeneticVariation | 0.72 | disgenet |
| Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive | POLR1C | disease | C1855433 | Biomarker | 0.72 | disgenet |
| Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive | OSGEP | disease | C1855433 | GeneticVariation | 0.01 | disgenet |
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