| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Arhinia, choanal atresia, and microphthalmia | SMCHD1 | disease | C1863878 | GeneticVariation | 0.75 | disgenet |
| Arhinia, choanal atresia, and microphthalmia | SMCHD1 | disease | C1863878 | CausalMutation | 0.75 | disgenet |
| Arhinia, choanal atresia, and microphthalmia | SMCHD1 | disease | C1863878 | Biomarker | 0.75 | disgenet |
| Arhinia, choanal atresia, and microphthalmia | FSHMD1A | disease | C1863878 | GeneticVariation | 0.01 | disgenet |
| Arhinia, choanal atresia, and microphthalmia | DUX4 | disease | C1863878 | GeneticVariation | 0.01 | disgenet |
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