Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0007140
Disease: Carcinosarcoma
Carcinosarcoma
0.010 Biomarker disease BEFREE A total of 250 patients were enrolled, and the concordance rates were 56% for endometrioid adenocarcinoma grade 1 (EMG1), 67% for EMG2, 67% for EMG3, 82% for carcinosarcoma, 71% for serous carcinoma, and 67% for clear cell carcinoma. 30826751 2019
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: C0206681
Disease: Adenocarcinoma, Clear Cell
Adenocarcinoma, Clear Cell
0.010 Biomarker disease BEFREE A total of 250 patients were enrolled, and the concordance rates were 56% for endometrioid adenocarcinoma grade 1 (EMG1), 67% for EMG2, 67% for EMG3, 82% for carcinosarcoma, 71% for serous carcinoma, and 67% for clear cell carcinoma. 30826751 2019
CUI: C0206687
Disease: Carcinoma, Endometrioid
Carcinoma, Endometrioid
0.010 GeneticVariation disease BEFREE A total of 250 patients were enrolled, and the concordance rates were 56% for endometrioid adenocarcinoma grade 1 (EMG1), 67% for EMG2, 67% for EMG3, 82% for carcinosarcoma, 71% for serous carcinoma, and 67% for clear cell carcinoma. 30826751 2019
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: C1569637
Disease: Adenocarcinoma, Endometrioid
Adenocarcinoma, Endometrioid
0.010 GeneticVariation disease BEFREE A total of 250 patients were enrolled, and the concordance rates were 56% for endometrioid adenocarcinoma grade 1 (EMG1), 67% for EMG2, 67% for EMG3, 82% for carcinosarcoma, 71% for serous carcinoma, and 67% for clear cell carcinoma. 30826751 2019
CUI: C0027794
Disease: Neural Tube Defects
Neural Tube Defects
0.010 GeneticVariation group BEFREE Embryos homozygous for the mutation in Emg1 were small for gestational age with neural tube defects, and died between embryonic days 8.5 and 12.5. 25708872 2015
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
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: C0008073
Disease: Developmental Disabilities
Developmental Disabilities
0.010 GeneticVariation group BEFREE A mutation in the human EMG1 homolog causes Bowen-Conradi syndrome (BCS), a developmental disorder characterized by severe growth failure and psychomotor retardation leading to death in early childhood. 20858271 2010
CUI: C0015544
Disease: Failure to Thrive
Failure to Thrive
0.010 GeneticVariation disease BEFREE A mutation in the human EMG1 homolog causes Bowen-Conradi syndrome (BCS), a developmental disorder characterized by severe growth failure and psychomotor retardation leading to death in early childhood. 20858271 2010
CUI: C0878787
Disease: Growth failure
Growth failure
0.010 GeneticVariation phenotype BEFREE A mutation in the human EMG1 homolog causes Bowen-Conradi syndrome (BCS), a developmental disorder characterized by severe growth failure and psychomotor retardation leading to death in early childhood. 20858271 2010
CUI: C0553580
Disease: Ewings sarcoma
Ewings sarcoma
0.020 Biomarker disease BEFREE ATCC. www.lgcstandards-atcc.org/Products/All/CRL-1441.aspx?geo_country=it Memorial Sloan Kettering Cancer Cancer. https://www.mskcc.org/research-advantage/support/technology/tangiblematerial/sk-nep-1-human-ewing-sarcoma-cell-line. 30481065 2018
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: C0027651
Disease: Neoplasms
Neoplasms
0.020 Biomarker group BEFREE SK-NEP-1 and Rh1 are Ewing family tumor lines. 17154184 2008
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 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: C0027708
Disease: Nephroblastoma
Nephroblastoma
0.040 GeneticVariation disease BEFREE Carboplatin-based Nanomedicine to Enhance the Anticancer Effect in SK-NEP-1 WilmsꞌTumor Cells. 29552042 2017
CUI: C1333015
Disease: Childhood Kidney Wilms Tumor
Childhood Kidney Wilms Tumor
0.040 GeneticVariation disease BEFREE Carboplatin-based Nanomedicine to Enhance the Anticancer Effect in SK-NEP-1 WilmsꞌTumor Cells. 29552042 2017
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: 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