Disease: Erythrocytosis familial, 1 ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		0.020 Biomarker disease BEFREE Our results identify a novel PI3 kinase activity-independent function of p85 in EpoR internalization and support a model that defects of internalization in truncated EpoRs from PFCP patients contribute to Epo hypersensitivity and prolonged signaling. 19336760 2009
CUI: C4551637
Disease: Erythrocytosis familial, 1
Erythrocytosis familial, 1 		0.020 Biomarker disease BEFREE Familial polycythemia caused by a novel mutation in the beta globin gene: essential role of P50 in evaluation of familial polycythemia. 17952198 2007