| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | OPHN1 | disease | C1845366 | Biomarker | 0.7 | disgenet |
| Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | OPHN1 | disease | C1845366 | GermlineCausalMutation | 0.7 | disgenet |
| Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | OPHN1 | disease | C1845366 | CausalMutation | 0.7 | disgenet |
| Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | OPHN1 | disease | C1845366 | GeneticVariation | 0.7 | disgenet |
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