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 |
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 |
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 |
TREACHER COLLINS SYNDROME 2
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
TREACHER COLLINS SYNDROME 2
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
TREACHER COLLINS SYNDROME 2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
TREACHER COLLINS SYNDROME 2
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
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 |
Congenital small ears
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|
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 |
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 |
Mandibulofacial Dysostosis
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Mutations in POLR1D are present in about 5% of individuals diagnosed with TCS.
|
25348728 |
2015 |
Mandibulofacial Dysostosis
|
0.380 |
Biomarker
|
disease |
BEFREE |
Mutations in TCOF1, POLR1C and POLR1D have all been implicated in causing TCS.
|
24690222 |
2014 |
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 |
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 |
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 |
Mandibulofacial Dysostosis
|
0.380 |
Biomarker
|
disease |
CTD_human |
Subsequently, we detected 20 additional heterozygous mutations of POLR1D in 252 individuals with TCS.
|
21131976 |
2011 |
Mandibulofacial Dysostosis
|
0.380 |
GeneticVariation
|
disease |
BEFREE |
Subsequently, we detected 20 additional heterozygous mutations of POLR1D in 252 individuals with TCS.
|
21131976 |
2011 |
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 |
Drug abuse
|
0.300 |
Biomarker
|
group |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |
Drug habituation
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |
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 |
Substance Dependence
|
0.300 |
Biomarker
|
disease |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |
Substance Use Disorders
|
0.300 |
Biomarker
|
group |
CTD_human |
Genome wide association for addiction: replicated results and comparisons of two analytic approaches.
|
20098672 |
2010 |