Annotation Detail
Information
- Associated Genes
- EPOR
- Associated Variants
-
EPOR MUTATION
EPOR MUTATION - Associated Disease
- Familial erythrocytosis
- Source Database
- DisGeNET
- Description
- Some patients with primary hereditary erythrocytosis exhibit a mutation in the erythropoietin receptor (EPOR) which is associated with low serum erythropoietin (EPO) levels.
- Pubmed
- 25189721
- Section of the abstract supporting the evidence
- ALL_TEXT_1/3
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 2
- Original source reporting the Gene Disease association
- BeFree,CTD_human,GAD,MGD,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.445352892571485
Drugs