POLR3B, RNA polymerase III subunit B, 55703

N. diseases: 71; N. variants: 19
Disease: Cerebellar hypoplasia with endosteal sclerosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1859301
Disease: Cerebellar hypoplasia with endosteal sclerosis
Cerebellar hypoplasia with endosteal sclerosis 		0.400 GermlineCausalMutation phenotype ORPHANET Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder. 28589944 2017
CUI: C1859301
Disease: Cerebellar hypoplasia with endosteal sclerosis
Cerebellar hypoplasia with endosteal sclerosis 		0.400 GermlineCausalMutation phenotype ORPHANET Cerebellar hypoplasia-endosteal sclerosis: a long term follow-up. 15672385 2005
CUI: C1859301
Disease: Cerebellar hypoplasia with endosteal sclerosis
Cerebellar hypoplasia with endosteal sclerosis 		0.400 CausalMutation phenotype CLINVAR