| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate | EFTUD2 | disease | C1864652 | Biomarker | 0.8 | disgenet |
| Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate | EFTUD2 | disease | C1864652 | AlteredExpression | 0.8 | disgenet |
| Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate | EFTUD2 | disease | C1864652 | GermlineCausalMutation | 0.8 | disgenet |
| Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate | EFTUD2 | disease | C1864652 | GeneticVariation | 0.8 | disgenet |
| Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate | EFTUD2 | disease | C1864652 | CausalMutation | 0.8 | disgenet |
| Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate | HUWE1 | disease | C1864652 | Biomarker | 0.01 | disgenet |
| Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate | HTC2 | disease | C1864652 | Biomarker | 0.01 | disgenet |
| Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate | GRIN1 | disease | C1864652 | GeneticVariation | 0.01 | disgenet |
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