POLR3A, RNA polymerase III subunit A, 11128

N. diseases: 219; N. variants: 47
Disease: Leukodystrophy, Dysmyelinating, with Oligodontia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3502054
Disease: Leukodystrophy, Dysmyelinating, with Oligodontia
Leukodystrophy, Dysmyelinating, with Oligodontia 		0.300 GermlineCausalMutation disease ORPHANET Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy. 21855841 2011