Annotation Detail
Information
- Associated Genes
- EPO
- Associated Variants
-
EPO MUTATION
EPO MUTATION - Associated Disease
- Fatty Liver
- Source Database
- DisGeNET
- Description
- The loss of all PHD isoforms results in both polycythemia, which is caused by Epo overproduction, and fatty livers.
- Pubmed
- 26012551
- Section of the abstract supporting the evidence
- ALL_TEXT_2/3
- Number of the section of the abstract supporting the evidence
- 2
- Number of the sentence supporting the evidence
- 4
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
Drugs