| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies | KIF7 | disease | C1846722 | Biomarker | 0.7 | disgenet |
| Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies | KIF7 | disease | C1846722 | GermlineCausalMutation | 0.7 | disgenet |
| Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies | KIF7 | disease | C1846722 | CausalMutation | 0.7 | disgenet |
| Macrocephaly with Multiple Epiphyseal Dysplasia and Distinctive Facies | KIF7 | disease | C1846722 | GeneticVariation | 0.7 | disgenet |
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