| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Acrofacial dysostosis, Nager type | SF3B4 | disease | C0265245 | CausalMutation | 0.8 | orphanet , disgenet |
| Acrofacial dysostosis, Nager type | SF3B4 | disease | C0265245 | GeneticVariation | 0.8 | orphanet , disgenet |
| Acrofacial dysostosis, Nager type | SF3B4 | disease | C0265245 | Biomarker | 0.8 | orphanet , disgenet |
| Acrofacial dysostosis, Nager type | SF3B4 | disease | C0265245 | GermlineCausalMutation | 0.8 | orphanet , disgenet |
| Acrofacial dysostosis, Nager type | PRRX1 | disease | C0265245 | AlteredExpression | 0.01 | disgenet |
| Acrofacial dysostosis, Nager type | IKBKG | disease | C0265245 | GeneticVariation | 0.01 | disgenet |
| Acrofacial dysostosis, Nager type | PRRX2 | disease | C0265245 | GeneticVariation | 0.01 | disgenet |
| Acrofacial dysostosis, Nager type | SNRPB | disease | C0265245 | AlteredExpression | 0.01 | disgenet |
| Acrofacial dysostosis, Nager type | ZFP37 | disease | C0265245 | Biomarker | 0.01 | disgenet |
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