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EPO

erythropoietin
2 disorders 1 modifier 1 causative 7q22.1 gene with protein product
HGNC:3415MonarchNCBI Gene 2056ENSG00000130427UniProt P01588OMIM 133170

Aliases: EP.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

DisorderRelationshipWhere the gene appears
Chuvash Polycythemia modifier germline
Familial Erythrocytosis 5 causative germline gain of function
mechanism: EPO Exon 2 Frameshift Deletion; EPO Noncoding Regulatory Variant; Excess Bioactive Circulating Erythropoietin

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.