| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Kaufman oculocerebrofacial syndrome | UBE3B | disease | C1855663 | GeneticVariation | 0.75 | disgenet |
| Kaufman oculocerebrofacial syndrome | UBE3B | disease | C1855663 | CausalMutation | 0.75 | disgenet |
| Kaufman oculocerebrofacial syndrome | UBE3B | disease | C1855663 | GermlineCausalMutation | 0.75 | disgenet |
| Kaufman oculocerebrofacial syndrome | UBE3B | disease | C1855663 | Biomarker | 0.75 | disgenet |
| Kaufman oculocerebrofacial syndrome | WDR20 | disease | C1855663 | AlteredExpression | 0.01 | disgenet |
| Kaufman oculocerebrofacial syndrome | PTPN4 | disease | C1855663 | AlteredExpression | 0.01 | disgenet |
| Kaufman oculocerebrofacial syndrome | RTL1 | disease | C1855663 | AlteredExpression | 0.01 | disgenet |
| Kaufman oculocerebrofacial syndrome | MEG3 | disease | C1855663 | AlteredExpression | 0.01 | disgenet |
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