Hypomyelinating leukodystrophy, with hypodontia and hypogonadotropic hypogonadism
| Disease Term | Disease ID | Gene Symbol | Classification | References | Source |
|---|---|---|---|---|---|
| Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism | C2676243 | POLR1C | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 26151409 | - |
| POLR3A | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 614258, 21855841, 22036171, 23355746, 23694757, 24357685, 25655951, 27506977, 28459997, 30414627 | - | ||
| POLR3B | Unknown Evidence from: GenCC, GWAS, ClinVar (non-pathogenic), CBGDA, or Text Mining associations | 21937992, 22036172 | - |