Disease Term Disease ID Gene Symbol References
Leukodystrophy, Hypomyelinating, with Hypodontia and Hypogonadotropic Hypogonadism C2676243 POLR1C 26151409
POLR3A 21855841, 28459997, 25655951, 614258, 30414627, 27506977, 24357685, 23355746, 23694757, 22036171
POLR3B 21937992, 22036172