Gene: POLR3B ×
Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B 		0.110 Biomarker phenotype BEFREE A definite molecular diagnosis was obtained in 5/10 families and included the following diseases: autosomal recessive spastic ataxia of Charlevoix-Saguenay, POLR3B-related hypomyelinating leukodystrophy, primary coenzyme Q10 deficiency type 4, Niemann-Pick disease type C1 and SYNE1-related ataxia. 30548255 2019
Entrez Id: 55703
Gene Symbol: POLR3B
POLR3B 		0.110 CausalMutation phenotype CLINVAR