EPO, erythropoietin, 2056

N. diseases: 646; N. variants: 11
Disease: Congenital Abnormality ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 Biomarker group BEFREE In secondary erythrocytosis, the elevated red cell count is powered by factors outside the erythroid compartment, for instance by raised erythropoietin (EPO) synthesis based on congenital defects of the oxygen-sensing pathway. 31038790 2019
CUI: C0000768
Disease: Congenital Abnormality
Congenital Abnormality 		0.020 Biomarker group BEFREE A pronounced enrichment of EPO was observed in cysts with sodium concentrations greater than 100 mmol/liter, suggesting an association with proximal tubular malformations. 2794053 1989