In the knowledge base ยท 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
Acute Erythroid Leukemia cooperating somatic
mechanism: EPOR/JAK2/STAT5 Signaling Amplification
Primary Familial Polycythemia Due to EPO Receptor Mutation causative germline gain of function
mechanism: EPOR C-Terminal Cytoplasmic Truncation
Parvovirus B19 Infection no genetic record
mechanism: EPO-STAT5 Signaling Pathway

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