Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C
0.130 GeneticVariation disease BEFREE Recently a recessive mutation in POLR1C causative of Pol III-related leukodystrophies was identified. 31368241 2019
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C
0.130 Biomarker disease BEFREE Of those, POLR1C is also implicated in a mandibulofacial dysostosis syndrome without leukodystrophy as POLR1A is. 28051070 2017
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C
0.130 GeneticVariation disease BEFREE Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. 26151409 2015
Entrez Id: 9533
Gene Symbol: POLR1C
POLR1C
0.130 Biomarker disease HPO