POLR1C, RNA polymerase I and III subunit C, 9533

N. diseases: 86; N. variants: 24
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C1855433
Disease: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 		0.720 CausalMutation disease CLINVAR Treacher Collins syndrome 3 (TCS3)-associated POLR1C mutants are localized in the lysosome and inhibits chondrogenic differentiation. 29567474 2018
CUI: C1855433
Disease: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 		0.720 GeneticVariation disease BEFREE Here we show that TCS3-associated missense mutations cause aberrant intracellular localization of POLR1C, inhibiting chondrogenic differentiation. 29567474 2018
CUI: C1855433
Disease: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 		0.720 GeneticVariation disease BEFREE tRNA N6-adenosine threonylcarbamoyltransferase defect due to KAE1/TCS3 (OSGEP) mutation manifest by neurodegeneration and renal tubulopathy. 28272532 2017
CUI: C1855433
Disease: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 		0.720 GeneticVariation disease UNIPROT Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. 26151409 2015
CUI: C1855433
Disease: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 		0.720 GeneticVariation disease CLINVAR Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. 26151409 2015
CUI: C1855433
Disease: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 		0.720 Biomarker disease GENOMICS_ENGLAND Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. 21131976 2011
CUI: C1855433
Disease: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 		0.720 GeneticVariation disease UNIPROT Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. 21131976 2011
CUI: C1855433
Disease: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 		0.720 CausalMutation disease CLINVAR Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. 21131976 2011
CUI: C1855433
Disease: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 		0.720 GeneticVariation disease CLINVAR Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. 21131976 2011
CUI: C1855433
Disease: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 		0.720 Biomarker disease GENOMICS_ENGLAND Identification of genes expressed in human CD34(+) hematopoietic stem/progenitor cells by expressed sequence tags and efficient full-length cDNA cloning. 9653160 1998
CUI: C1855433
Disease: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C1855433
Disease: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 		0.720 Biomarker disease CTD_human
CUI: C1855433
Disease: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive
Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive 		0.720 Biomarker disease GENOMICS_ENGLAND
CUI: C4225305
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 11
LEUKODYSTROPHY, HYPOMYELINATING, 11 		0.700 Biomarker disease GENOMICS_ENGLAND Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. 26151409 2015
CUI: C4225305
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 11
LEUKODYSTROPHY, HYPOMYELINATING, 11 		0.700 GeneticVariation disease UNIPROT Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III. 26151409 2015
CUI: C4225305
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 11
LEUKODYSTROPHY, HYPOMYELINATING, 11 		0.700 Biomarker disease GENOMICS_ENGLAND A practical approach to diagnosing adult onset leukodystrophies. 24357685 2014
CUI: C4225305
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 11
LEUKODYSTROPHY, HYPOMYELINATING, 11 		0.700 CausalMutation disease CLINVAR Epididymal sarcoidosis: a report of two cases and a review of the literature. 610060 1978
CUI: C4225305
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 11
LEUKODYSTROPHY, HYPOMYELINATING, 11 		0.700 GeneticVariation disease CLINVAR
CUI: C4225305
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 11
LEUKODYSTROPHY, HYPOMYELINATING, 11 		0.700 Biomarker disease CTD_human
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		0.500 GeneticVariation disease BEFREE We report here a new family with two sisters affected by mild TCS carrying compound POLR1C heterozygous mutations, and review the literature on mild forms of TCS, autosomal recessive inheritance in this syndrome and POLR1C mutations. 30957429 2019
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		0.500 Biomarker disease BEFREE Results suggested that the restoration of polr1c at 8 hours after fertilization could rescue the TCS facial malformation phenotype by correcting the neural crest cell expression, reducing the cell death, and normalizing the p53 mRNA expression level in the rescued morphants. 29128566 2018
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		0.500 Biomarker disease BEFREE Taken together, TCS3-associated mutation leads to the localization of POLR1C into the lysosome and inhibits chondrogenic differentiation, possibly explaining a portion of the pathological molecular basis underlying Treacher Collins syndrome. 29567474 2018
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		0.500 Biomarker disease BEFREE Of those, POLR1C is also implicated in a mandibulofacial dysostosis syndrome without leukodystrophy as POLR1A is. 28051070 2017
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		0.500 Biomarker disease BEFREE Lastly, we partially rescued the TCS facial phenotype in the background of p53 mutants, which supported the hypothesis that POLR1C-dependent type 3 TCS is associated with the p53 pathway. 26972049 2016
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis 		0.500 GeneticVariation disease BEFREE More importantly, we show that genetic inhibition of tp53 can suppress neuroepithelial cell death and ameliorate the skeletal anomalies in polr1c and polr1d mutants, providing a potential avenue to prevent the pathogenesis of Treacher Collins syndrome. 27448281 2016