POLR1D, RNA polymerase I and III subunit D, 51082

N. diseases: 84; N. variants: 18
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C3150983
Disease: TREACHER COLLINS SYNDROME 2
TREACHER COLLINS SYNDROME 2
0.700 GeneticVariation disease UNIPROT Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. 21131976 2011
CUI: C3150983
Disease: TREACHER COLLINS SYNDROME 2
TREACHER COLLINS SYNDROME 2
0.700 Biomarker disease GENOMICS_ENGLAND Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome. 21131976 2011
CUI: C3150983
Disease: TREACHER COLLINS SYNDROME 2
TREACHER COLLINS SYNDROME 2
0.700 Biomarker disease GENOMICS_ENGLAND Mouse RNA polymerase I 16-kDa subunit able to associate with 40-kDa subunit is a homolog of yeast AC19 subunit of RNA polymerases I and III. 8955128 1996
CUI: C3150983
Disease: TREACHER COLLINS SYNDROME 2
TREACHER COLLINS SYNDROME 2
0.700 CausalMutation disease CLINVAR
CUI: C3150983
Disease: TREACHER COLLINS SYNDROME 2
TREACHER COLLINS SYNDROME 2
0.700 Biomarker disease CTD_human
CUI: C3150983
Disease: TREACHER COLLINS SYNDROME 2
TREACHER COLLINS SYNDROME 2
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C3150983
Disease: TREACHER COLLINS SYNDROME 2
TREACHER COLLINS SYNDROME 2
0.700 Biomarker disease GENOMICS_ENGLAND
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
0.400 Biomarker disease GENOMICS_ENGLAND Mouse RNA polymerase I 16-kDa subunit able to associate with 40-kDa subunit is a homolog of yeast AC19 subunit of RNA polymerases I and III. 8955128 1996
CUI: C0152423
Disease: Congenital small ears
Congenital small ears
0.400 Biomarker disease HPO
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis
0.380 Biomarker disease BEFREE As a notable result, the genes associated with many kinds of syndromic hearing loss (such as Clpp, Hars2, Hsd17b4, Lars2 for Perrault syndrome, Polr1c and Polr1d for Treacher Collins syndrome, Ndp for Norrie Disease, Kal for Kallmann syndrome, Edn3 and Snai2 for Waardenburg Syndrome, Col4a3 for Alport syndrome, Sema3e for CHARGE syndrome, Col9a1 for Sticker syndrome, Cdh23, Cib2, Clrn1, Pcdh15, Ush1c, Ush2a, Whrn for Usher syndrome and Wfs1 for Wolfram syndrome) showed higher levels of expression in the spiral ganglion than in other parts of the cochlea. 28263850 2017
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis
0.380 GeneticVariation disease BEFREE Furthermore, we have established polr1c and polr1d mutant zebrafish as models of Treacher Collins syndrome together with a unifying mechanism underlying its pathogenesis and possible prevention. 27448281 2016
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis
0.380 GeneticVariation disease BEFREE Mutations in POLR1D are present in about 5% of individuals diagnosed with TCS. 25348728 2015
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis
0.380 Biomarker disease BEFREE Mutations in TCOF1, POLR1C and POLR1D have all been implicated in causing TCS. 24690222 2014
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis
0.380 GeneticVariation disease BEFREE This is the first report of POLR1D mutation being responsible for an autosomal recessive inherited Treacher Collins syndrome. 24603435 2014
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis
0.380 GeneticVariation disease BEFREE The TCOF1, POLR1C and POLR1D genes were sequenced to identify the pathogenic mutation responsible for the development of TCS. 23838542 2013
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis
0.380 GeneticVariation disease BEFREE Treacher Collins syndrome (TCS) is the most common and well-known mandibulofacial dysostosis caused by mutations in at least three genes involved in pre-rRNA transcription, the TCOF1, POLR1D and POLR1C genes. 22729243 2012
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis
0.380 Biomarker disease CTD_human Subsequently, we detected 20 additional heterozygous mutations of POLR1D in 252 individuals with TCS. 21131976 2011
CUI: C0242387
Disease: Mandibulofacial Dysostosis
Mandibulofacial Dysostosis
0.380 GeneticVariation disease BEFREE Subsequently, we detected 20 additional heterozygous mutations of POLR1D in 252 individuals with TCS. 21131976 2011
CUI: C0152013
Disease: Adenocarcinoma of lung (disorder)
Adenocarcinoma of lung (disorder)
0.300 Biomarker disease CTD_human c-Myc targeted regulators of cell metabolism in a transgenic mouse model of papillary lung adenocarcinoma. 27602772 2016
CUI: C0013146
Disease: Drug abuse
Drug abuse
0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0013170
Disease: Drug habituation
Drug habituation
0.300 Biomarker phenotype CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0013222
Disease: Drug Use Disorders
Drug Use Disorders
0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
Organic Mental Disorders, Substance-Induced
0.300 Biomarker disease CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0038580
Disease: Substance Dependence
Substance Dependence
0.300 Biomarker disease CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010
CUI: C0038586
Disease: Substance Use Disorders
Substance Use Disorders
0.300 Biomarker group CTD_human Genome wide association for addiction: replicated results and comparisons of two analytic approaches. 20098672 2010