Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036836
Disease: Serum total protein measurement
Serum total protein measurement 		0.100 GeneticVariation phenotype GWASDB Discovery and fine mapping of serum protein loci through transethnic meta-analysis. 23022100 2012
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.130 GeneticVariation disease BEFREE We find that the MM risk allele harbours a Thr298Ala missense variant in an ELL2 domain required for transcription elongation. 26007630 2015
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.130 GeneticVariation disease GWASCAT Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma. 26007630 2015
CUI: C0026470
Disease: Monoclonal Gammopathy of Undetermined Significance
Monoclonal Gammopathy of Undetermined Significance 		0.100 GeneticVariation disease GWASCAT Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma. 26007630 2015
CUI: C0030489
Disease: Paraproteinemias
Paraproteinemias 		0.100 GeneticVariation disease GWASCAT Variants in ELL2 influencing immunoglobulin levels associate with multiple myeloma. 26007630 2015
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.130 GeneticVariation disease GWASCAT Genome-wide association study identifies multiple susceptibility loci for multiple myeloma. 27363682 2016
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.130 GeneticVariation disease GWASCAT Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci. 28112199 2017
CUI: C0019829
Disease: Hodgkin Disease
Hodgkin Disease 		0.100 GeneticVariation disease GWASCAT Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci. 28112199 2017
CUI: C0023434
Disease: Chronic Lymphocytic Leukemia
Chronic Lymphocytic Leukemia 		0.100 GeneticVariation disease GWASCAT Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci. 28112199 2017
CUI: C0855095
Disease: Small Lymphocytic Lymphoma
Small Lymphocytic Lymphoma 		0.100 GeneticVariation disease GWASCAT Genome-wide association analysis of chronic lymphocytic leukaemia, Hodgkin lymphoma and multiple myeloma identifies pleiotropic risk loci. 28112199 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.040 AlteredExpression disease BEFREE ELL2 expression in human prostate cancer specimens was detected using quantitative polymerase chain reaction coupled with laser capture microdissection. 28167296 2017
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.040 AlteredExpression disease BEFREE ELL2 expression in human prostate cancer specimens was detected using quantitative polymerase chain reaction coupled with laser capture microdissection. 28167296 2017
CUI: C0035335
Disease: Retinoblastoma
Retinoblastoma 		0.010 Biomarker disease BEFREE Functional interaction between ELL2 and RB was tested using siRNA knockdown, BrdU incorporation, Transwell, and/or invasion assays in LNCaP, C4-2, and 22Rv1 prostate cancer cells. 28167296 2017
CUI: C0027651
Disease: Neoplasms
Neoplasms 		0.020 Biomarker group BEFREE Our results provide the first evidence that ELL2 is a direct target of miR-299 and increased ELL2 expression and down-regulation of miR-299 are associated with GBM progression and poor prognosis in patients, suggesting that ELL2 and miR-299 might have potential prognostic value and be used as tumor biomarkers for the diagnosis of patients with GBM. 28531325 2017
CUI: C1621958
Disease: Glioblastoma Multiforme
Glioblastoma Multiforme 		0.010 Biomarker disease BEFREE Our results provide the first evidence that ELL2 is a direct target of miR-299 and increased ELL2 expression and down-regulation of miR-299 are associated with GBM progression and poor prognosis in patients, suggesting that ELL2 and miR-299 might have potential prognostic value and be used as tumor biomarkers for the diagnosis of patients with GBM. 28531325 2017
CUI: C0027627
Disease: Neoplasm Metastasis
Neoplasm Metastasis 		0.010 Biomarker phenotype BEFREE MRCCAT1 is a critical lncRNA that promotes ccRCC metastasis via inhibiting NPR3 and activating p38-MAPK signaling. 28659173 2017
CUI: C0279702
Disease: Conventional (Clear Cell) Renal Cell Carcinoma
Conventional (Clear Cell) Renal Cell Carcinoma 		0.010 Biomarker disease BEFREE Multivariate Cox regression analysis revealed that MRCCAT1 is an independent prognostic factor for ccRCC patients. 28659173 2017
CUI: C1269955
Disease: Tumor Cell Invasion
Tumor Cell Invasion 		0.010 AlteredExpression phenotype BEFREE Overexpression of MRCCAT1 promotes ccRCC cells proliferation, migration, and invasion. 28659173 2017
CUI: C0376358
Disease: Malignant neoplasm of prostate
Malignant neoplasm of prostate 		0.040 Biomarker disease BEFREE We recently showed that ELL2 loss could enhance prostate cancer cell proliferation and migration, and that <i>ELL2</i> gene expression was downregulated in high Gleason score prostate cancer specimens. 28870994 2017
CUI: C0600139
Disease: Prostate carcinoma
Prostate carcinoma 		0.040 Biomarker disease BEFREE We recently showed that ELL2 loss could enhance prostate cancer cell proliferation and migration, and that <i>ELL2</i> gene expression was downregulated in high Gleason score prostate cancer specimens. 28870994 2017
CUI: C0282612
Disease: Prostatic Intraepithelial Neoplasias
Prostatic Intraepithelial Neoplasias 		0.020 Biomarker disease BEFREE Here, prostate-specific deletion of ELL2 in a mouse model revealed a potential role for ELL2 as a prostate tumor suppressor <i>in vivo</i><i>Ell2</i>-knockout mice exhibited prostatic defects including increased epithelial proliferation, vascularity and PIN lesions similar to the previously determined prostate phenotype in <i>Eaf2</i>-knockout mice. 28870994 2017
CUI: C0033578
Disease: Prostatic Neoplasms
Prostatic Neoplasms 		0.010 Biomarker group BEFREE Here, prostate-specific deletion of ELL2 in a mouse model revealed a potential role for ELL2 as a prostate tumor suppressor <i>in vivo</i><i>Ell2</i>-knockout mice exhibited prostatic defects including increased epithelial proliferation, vascularity and PIN lesions similar to the previously determined prostate phenotype in <i>Eaf2</i>-knockout mice. 28870994 2017
CUI: C1704272
Disease: Benign Prostatic Hyperplasia
Benign Prostatic Hyperplasia 		0.010 Biomarker disease BEFREE In the prostate, <i>ELL2</i> is an androgen response gene that is upregulated in benign prostatic hyperplasia (BPH). 28870994 2017
CUI: C1739135
Disease: Progression of prostate cancer
Progression of prostate cancer 		0.010 Biomarker disease BEFREE These results suggest that ELL2 and its pathway genes likely play an important role in the development and progression of prostate cancer. 28870994 2017
CUI: C0026764
Disease: Multiple Myeloma
Multiple Myeloma 		0.130 AlteredExpression disease BEFREE Since ELL2 is critical to the B cell differentiation process, reduced ELL2 expression is consistent with inherited genetic variation contributing to arrest of plasma cell development, facilitating MM clonal expansion. 28903037 2017