POLR1C, RNA polymerase I and III subunit C, 9533

N. diseases: 86; N. variants: 24
Disease: Leukodystrophy ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.130 GeneticVariation disease BEFREE Recently a recessive mutation in POLR1C causative of Pol III-related leukodystrophies was identified. 31368241 2019
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.130 Biomarker disease BEFREE Of those, POLR1C is also implicated in a mandibulofacial dysostosis syndrome without leukodystrophy as POLR1A is. 28051070 2017
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.130 GeneticVariation disease BEFREE Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. 26151409 2015
CUI: C0023520
Disease: Leukodystrophy
Leukodystrophy 		0.130 Biomarker disease HPO