POLR1C, RNA polymerase I and III subunit C, 9533

N. diseases: 86; N. variants: 24
Disease: RNA polymerase III-related leukodystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4038750
Disease: RNA polymerase III-related leukodystrophy
RNA polymerase III-related leukodystrophy 		0.010 GeneticVariation disease BEFREE Novel POLR1C mutation in RNA polymerase III-related leukodystrophy with severe myoclonus and dystonia. 31368241 2019