Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
0.110 GeneticVariation disease BEFREE This was a multicenter retrospective study to collect neuroradiologic, clinical, and molecular data of patients with mutations in POLR3A and POLR3B without the classic MRI phenotype, i.e., diffuse hypomyelination associated with relative T2 hypointensity of the ventrolateral thalamus, globus pallidus, optic radiation, corticospinal tract at the level of the internal capsule, and dentate nucleus, cerebellar atrophy, and thinning of the corpus callosum. 27029625 2016
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B
0.110 Biomarker disease HPO