POLR1C, RNA polymerase I and III subunit C, 9533

N. diseases: 86; N. variants: 24
Disease: Mandibulofacial dysostosis, Treacher Collins type, autosomal recessive ×
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