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: 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 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 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 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 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 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 Mutations in POLR1D are present in about 5% of individuals diagnosed with TCS. 25348728 2015
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 AlteredExpression group BEFREE Furthermore, the immunohistochemistry (IHC) staining of a tissue microarray (TMA) of 75 human CRC patients showed that the expression level of POLR1D was positively correlated to tumor size and poor survival of CRC patients. 30582221 2019
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 AlteredExpression group BEFREE χ2 test and Spearman's correlative analysis showed that a high POLR1D expression is significantly associated with clinical stage, Dukes stage, tumor differentiation, depth of invasion, and metastasis (p < 0.05). 31722331 2020
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.030 Biomarker group BEFREE Other focal events encompassed potential new candidate tumor suppressors (losses) and oncogenes (gains), including CCDC68, CSMD1, POLR1D, and PMEPA1. 19359472 2009
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 AlteredExpression disease BEFREE POLR1D expression in CRC tissues was significantly higher than in the ANTs. 31722331 2020
CUI: C0009402
Disease: Colorectal Carcinoma
Colorectal Carcinoma 		0.020 AlteredExpression disease BEFREE Furthermore, the immunohistochemistry (IHC) staining of a tissue microarray (TMA) of 75 human CRC patients showed that the expression level of POLR1D was positively correlated to tumor size and poor survival of CRC patients. 30582221 2019
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 Biomarker disease BEFREE POLR1D promotes colorectal cancer progression and predicts poor prognosis of patients. 30582221 2019
CUI: C4722085
Disease: Malignant neoplasm of colon and/or rectum
Malignant neoplasm of colon and/or rectum 		0.020 Biomarker disease BEFREE Expression and Clinical Significance of POLR1D in Colorectal Cancer. 31722331 2020
CUI: C0014070
Disease: Encephalomyelitis
Encephalomyelitis 		0.010 AlteredExpression disease BEFREE To further establish our approach, we aimed to suppress POL1 pathway by silencing of the POL1-related RRN3, POLR1D and LRPPRC genes in specific MOG35-55-activated lymphocytes and assess their capacity to induce experimental autoimmune encephalomyelitis (EAE) by passive transfer. 28755038 2017
CUI: C0026769
Disease: Multiple Sclerosis
Multiple Sclerosis 		0.010 Biomarker disease BEFREE POL1 related biomarkers RRN3, POLR1D and LRPPRC were over-expressed x1.6 (p = .002), ×1.7 (p = .01) and x2.0 (p = .001) times higher respectively, in MS patients (N = 30) during acute clinical relapse as compared with remission. 30316990 2018
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 AlteredExpression phenotype BEFREE χ2 test and Spearman's correlative analysis showed that a high POLR1D expression is significantly associated with clinical stage, Dukes stage, tumor differentiation, depth of invasion, and metastasis (p < 0.05). 31722331 2020
CUI: C0030567
Disease: Parkinson Disease
Parkinson Disease 		0.010 Biomarker disease BEFREE Finally, we examined the expression of GPX3, SLC25A20, LRRN3 and POLR1D in blood samples of patients with PD by qRT-PCR. 31199560 2019
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 AlteredExpression phenotype BEFREE χ2 test and Spearman's correlative analysis showed that a high POLR1D expression is significantly associated with clinical stage, Dukes stage, tumor differentiation, depth of invasion, and metastasis (p < 0.05). 31722331 2020
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.010 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
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: 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: 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