Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.040 Biomarker disease BEFREE With over-expression and knockdown of miR-190b in WT-derived cell line SK-NEP-1, we next studied cell proliferation, cell circle, apoptosis, invasion and migration abilities change caused by miR-190b ectopic expression. 29509256 2018
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor 		0.040 Biomarker disease BEFREE With over-expression and knockdown of miR-190b in WT-derived cell line SK-NEP-1, we next studied cell proliferation, cell circle, apoptosis, invasion and migration abilities change caused by miR-190b ectopic expression. 29509256 2018
CUI: C1859405
Disease: Bowen-Conradi syndrome
Bowen-Conradi syndrome 		0.960 Biomarker disease GENOMICS_ENGLAND Which genes to assess in the NGS diagnostics of intellectual disability? The case for a consensus database-driven and expert-curated approach. 30914295 2019
CUI: C1859405
Disease: Bowen-Conradi syndrome
Bowen-Conradi syndrome 		0.960 GeneticVariation disease BEFREE We identified variant NM_006331.6:c.400A-->G, p.D86G in the 18S ribosome assembly protein EMG1 as the probable cause of BCS. 19463982 2009
CUI: C0553580
Disease: Ewings sarcoma
Ewings sarcoma 		0.020 Biomarker disease BEFREE We describe the use of gene expression profiling to show that SK-NEP-1, a cell line previously thought to represent anaplastic Wilms tumor, is instead related to Ewing sarcoma. 17154184 2008
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.040 Biomarker disease BEFREE We describe the use of gene expression profiling to show that SK-NEP-1, a cell line previously thought to represent anaplastic Wilms tumor, is instead related to Ewing sarcoma. 17154184 2008
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor 		0.040 Biomarker disease BEFREE We describe the use of gene expression profiling to show that SK-NEP-1, a cell line previously thought to represent anaplastic Wilms tumor, is instead related to Ewing sarcoma. 17154184 2008
CUI: C1859405
Disease: Bowen-Conradi syndrome
Bowen-Conradi syndrome 		0.960 Biomarker disease BEFREE To begin to understand the role of EMG1 in mammalian development, and how its deficiency could lead to Bowen-Conradi syndrome, we have used mouse as a model. 20858271 2010
CUI: C1859405
Disease: Bowen-Conradi syndrome
Bowen-Conradi syndrome 		0.960 Biomarker disease BEFREE Three SSU processome components and their related human diseases will be explored in this review: hUTP4/Cirhin, implicated in North American Indian childhood cirrhosis (NAIC); UTP14, implicated in infertility, ovarian cancer, and scleroderma; and EMG1, implicated in Bowen-Conradi syndrome (BCS). 24240090 2014
CUI: C0011644
Disease: Scleroderma
Scleroderma 		0.010 Biomarker disease BEFREE Three SSU processome components and their related human diseases will be explored in this review: hUTP4/Cirhin, implicated in North American Indian childhood cirrhosis (NAIC); UTP14, implicated in infertility, ovarian cancer, and scleroderma; and EMG1, implicated in Bowen-Conradi syndrome (BCS). 24240090 2014
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.010 Biomarker disease BEFREE Three SSU processome components and their related human diseases will be explored in this review: hUTP4/Cirhin, implicated in North American Indian childhood cirrhosis (NAIC); UTP14, implicated in infertility, ovarian cancer, and scleroderma; and EMG1, implicated in Bowen-Conradi syndrome (BCS). 24240090 2014
CUI: C1858051
Disease: NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS
NORTH AMERICAN INDIAN CHILDHOOD CIRRHOSIS 		0.010 Biomarker disease BEFREE Three SSU processome components and their related human diseases will be explored in this review: hUTP4/Cirhin, implicated in North American Indian childhood cirrhosis (NAIC); UTP14, implicated in infertility, ovarian cancer, and scleroderma; and EMG1, implicated in Bowen-Conradi syndrome (BCS). 24240090 2014
CUI: C1859405
Disease: Bowen-Conradi syndrome
Bowen-Conradi syndrome 		0.960 AlteredExpression disease BEFREE These embryos exhibited dramatically reduced cell proliferation, which we also detected in autopsy brain tissue and bone marrow of BCS patients, consistent with a requirement for high levels of EMG1 in tissues with rapid cell proliferation. 25708872 2015
CUI: C1859405
Disease: Bowen-Conradi syndrome
Bowen-Conradi syndrome 		0.960 GeneticVariation disease BEFREE The BCS mutation in EMG1 leads to reduced nucleolar localisation, accumulation of EMG1D86G in nuclear foci and its proteasome-dependent degradation. 27798105 2016
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE SK-NEP-1 and Rh1 are Ewing family tumor lines. 17154184 2008
CUI: C0038454
Disease: Cerebrovascular accident
Cerebrovascular accident 		0.010 Biomarker group BEFREE Seven days after stroke, the following treatments were initiated and continued for 3 weeks: forced limb use in constraint-induced movement therapy rats (constraint-induced movement therapy group), intraperitoneal infusion of fasudil (a ROCK inhibitor) in fasudil rats (fasudil group), or lateral ventricular injection of NEP1-40 (a specific antagonist of the Nogo-66 receptor) in NEP1-40 rats (NEP1-40 group). 31169192 2019
CUI: C1859405
Disease: Bowen-Conradi syndrome
Bowen-Conradi syndrome 		0.960 Biomarker disease GENOMICS_ENGLAND Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. 19463982 2009
CUI: C1859405
Disease: Bowen-Conradi syndrome
Bowen-Conradi syndrome 		0.960 GermlineCausalMutation disease ORPHANET Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. 19463982 2009
CUI: C1859405
Disease: Bowen-Conradi syndrome
Bowen-Conradi syndrome 		0.960 GeneticVariation disease UNIPROT Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome. 19463982 2009
CUI: C0027708
Disease: Nephroblastoma
Nephroblastoma 		0.040 Biomarker disease BEFREE Moreover, HACE1 expression was virtually undetectable in the SK-NEP-1 Wilms' tumor cell line and in four of five additional primary Wilms' tumor cases compared with patient-matched normal kidney. 15254018 2004
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor 		0.040 Biomarker disease BEFREE Moreover, HACE1 expression was virtually undetectable in the SK-NEP-1 Wilms' tumor cell line and in four of five additional primary Wilms' tumor cases compared with patient-matched normal kidney. 15254018 2004
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE LBH589 had a significant effect and few side effects on SK-NEP-1 xenograft tumors. 26176219 2015
CUI: C1859405
Disease: Bowen-Conradi syndrome
Bowen-Conradi syndrome 		0.960 AlteredExpression disease BEFREE Interestingly, the Nep1 methyltransferase activity is not affected upon introduction of the BCS mutation. 20972225 2011
CUI: C0740391
Disease: Middle Cerebral Artery Occlusion
Middle Cerebral Artery Occlusion 		0.010 AlteredExpression disease BEFREE Immunohistochemistry and western blot assay results showed that, at 2 weeks after middle cerebral artery occlusion, expression levels of RhoA and ROCK were lower in the ischemic boundary zone in rats treated with NEP1-40 compared with rats treated with ischemia/reperfusion or constraint-induced movement therapy alone. 31169192 2019
CUI: C0019693
Disease: HIV Infections
HIV Infections 		0.300 Biomarker group CTD_human Host cell gene expression during human immunodeficiency virus type 1 latency and reactivation and effects of targeting genes that are differentially expressed in viral latency. 15308739 2004