EPO, erythropoietin, 2056

N. diseases: 646; N. variants: 11
Disease: ERYTHROCYTOSIS, FAMILIAL, 5 ×
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