EPO, erythropoietin, 2056

N. diseases: 646; N. variants: 11
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4693552
Disease: ERYTHROCYTOSIS, FAMILIAL, 5
ERYTHROCYTOSIS, FAMILIAL, 5
0.600 GeneticVariation disease UNIPROT A Gain-of-Function Mutation in EPO in Familial Erythrocytosis. 29514032 2018
CUI: C4693552
Disease: ERYTHROCYTOSIS, FAMILIAL, 5
ERYTHROCYTOSIS, FAMILIAL, 5
0.600 Biomarker disease GENOMICS_ENGLAND Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation. 28283061 2017
CUI: C4693552
Disease: ERYTHROCYTOSIS, FAMILIAL, 5
ERYTHROCYTOSIS, FAMILIAL, 5
0.600 GeneticVariation disease UNIPROT Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations. 27651169 2016
CUI: C4693552
Disease: ERYTHROCYTOSIS, FAMILIAL, 5
ERYTHROCYTOSIS, FAMILIAL, 5
0.600 CausalMutation disease CLINVAR
CUI: C0002871
Disease: Anemia
Anemia
0.500 Biomarker disease BEFREE Iron deficiency is a common etiology of anemia that causes suboptimal response to erythropoietin therapy in hemodialysis (HD) patients. 31679114 2020
CUI: C0002871
Disease: Anemia
Anemia
0.500 Biomarker disease BEFREE In low-risk lymphoma and solid tumour patients, iron support improves erythropoietin (EPO) cost-effectiveness in treating anaemia. 31533096 2020
CUI: C0002871
Disease: Anemia
Anemia
0.500 Biomarker disease BEFREE Nowadays, gene therapy approach is used by MSCs as a delivery vehicle in the preclinical and the clinical trials for the secretion of erythropoietin, recombinant antibodies, coagulation factors, cytokines, as well as angiogenic inhibitors in many blood disorders like anemia, hemophilia, and malignancies. 31691976 2020
CUI: C0002871
Disease: Anemia
Anemia
0.500 Biomarker disease BEFREE Erythropoiesis-stimulating agents have been used to treat anemia in patients with cancer, but there are concerns that erythropoiesis-stimulating agents might stimulate Epo receptors on tumor cells (Epo receptor-cancer hypothesis). 31351867 2020
CUI: C0002871
Disease: Anemia
Anemia
0.500 AlteredExpression disease BEFREE Beta (β)-thalassemia major is a genetic disorder with anemia and an increased level of erythropoietin by Janus kinase/signal transducers and activators of transcription (JAK/STAT) signaling pathway. 31495895 2020
CUI: C0002871
Disease: Anemia
Anemia
0.500 Biomarker disease BEFREE Methoxy polyethylene glycol-epoetin beta (continuous erythropoietin receptor activator, C.E.R.A.) is used for the treatment of anaemia in adults with chronic kidney disease (CKD). 31770451 2020
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE The recent major setback of erythropoietin-stimulating agents (ESAs) and the reluctance to transfuse cancer patients with mild and even moderate anemia, had resulted in significant under-treatment of CIA. 31830663 2020
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE The therapy for anemia evaluated in the most studies was erythropoietin-stimulating agents (77.7% of studies). 30100259 2019
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE The effectiveness of biosimilar epoetin alfa (Binocrit<sup>®</sup>, Sandoz) to correct anemia in lower-risk MDS patients has also been demonstrated in a retrospective, single-center, observational study. 31005849 2019
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE Despite specific therapy now available for anemia in CKD, clinical data accumulated in the last 2 decades suggests that there is a continued need for RBCT, which, we surmise, is due to underutilization of Erythropoietin Stimulating Agents (ESA) or clinical settings such as active bleed, bone marrow resistance such as myelofibrosis or infections where ESAs are ineffective. 31782127 2019
CUI: C0002871
Disease: Anemia
Anemia
0.500 AlteredExpression disease BEFREE Long-term and low dose of nitrate had beneficial effects against anemia in obese type 2 diabetic rats; these effects were associated with increased EPO and HIF-1 levels in kidney and liver as well as increased circulating EPO, testosterone, and iron. 30772502 2019
CUI: C0002871
Disease: Anemia
Anemia
0.500 Biomarker disease BEFREE Erythropoietin response to anaemia in heart failure. 30068234 2019
CUI: C0002871
Disease: Anemia
Anemia
0.500 Biomarker disease BEFREE However, the roles of magnesium in anemia and erythropoietin (EPO) responsiveness remain unclear in maintenance hemodialysis (MHD) patients. 31189174 2019
CUI: C0002871
Disease: Anemia
Anemia
0.500 AlteredExpression disease BEFREE Erythropoietin levels were inappropriately low in relation to the degree of anaemia, but, in contrast to low haemoglobin, not directly associated with joint damage progression. 30941747 2019
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE Mice with targeted deletion of <i>Ncoa4</i> specifically in the erythroid compartment developed a pronounced anemia in the immediate postnatal stage, a mild hypochromic microcytic anemia at adult stages, and were more sensitive to hemolysis with higher requirements for the Hif2a-erythropoietin axis and extramedullary erythropoiesis during recovery. 30630985 2019
CUI: C0002871
Disease: Anemia
Anemia
0.500 Biomarker disease BEFREE Considering that EPO is clinically used as chronic treatment against anemia, we used here the Tg6 mouse model that constitutively overexpresses human EPO in an oxygen-independent manner, to examine the consequences of long-term EPO therapy on mineral and bone metabolism. 31628396 2019
CUI: C0002871
Disease: Anemia
Anemia
0.500 Biomarker disease BEFREE There are conflicting reports on the adverse effects of erythropoietin (EPO) for the management of cancer-associated anemia. 30622244 2019
CUI: C0002871
Disease: Anemia
Anemia
0.500 GeneticVariation disease BEFREE To determine whether premature infants treated with erythropoietin (Epo) in the neonatal period for anemia had a lower incidence of bronchopulmonary dysplasia (BPD), defined as oxygen need at 36 weeks postmenstrual age, and lower rehospitalization rates in the first year of life than infants not exposed. 31374455 2019
CUI: C0002871
Disease: Anemia
Anemia
0.500 Biomarker disease BEFREE Relative EPO deficiency should be considered as a culprit in anemia of unknown etiology in diabetic patients, even those without CKD. 31619722 2019
CUI: C0002871
Disease: Anemia
Anemia
0.500 AlteredExpression disease BEFREE Serum erythropoietin (EPO) levels did not increase in 16 patients with both renal dysfunction and anemia (median, 31.9 mIU/ml). 30680668 2019
CUI: C0002871
Disease: Anemia
Anemia
0.500 Biomarker disease BEFREE Background In patients with chronic heart failure and chronic kidney disease, correction of anemia with erythropoietin-stimulating agents targeting normal hemoglobin levels is associated with an increased risk of cardiovascular morbidity and mortality. 31423921 2019