| Disease Information | ||||||
|---|---|---|---|---|---|---|
| Disease Name | Gene Name | Type | UMLS | Association Type | Score | Source |
| Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism | POLR3A | disease | C2676243 | CausalMutation | 0.75 | disgenet |
| Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism | POLR3A | disease | C2676243 | GermlineCausalMutation | 0.75 | disgenet |
| Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism | POLR3A | disease | C2676243 | GeneticVariation | 0.75 | disgenet |
| Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism | POLR3A | disease | C2676243 | Biomarker | 0.75 | disgenet |
| Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism | POLR3B | disease | C2676243 | Biomarker | 0.73 | disgenet |
| Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism | POLR3B | disease | C2676243 | CausalMutation | 0.73 | disgenet |
| Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism | POLR3B | disease | C2676243 | GermlineCausalMutation | 0.73 | disgenet |
| Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism | POLR3B | disease | C2676243 | GeneticVariation | 0.73 | disgenet |
| Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism | POLR1C | disease | C2676243 | GermlineCausalMutation | 0.3 | disgenet |
| Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism | RNF216 | disease | C2676243 | GeneticVariation | 0.01 | disgenet |
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