Annotation Detail
Information
- Associated Genes
- POLD1
- Associated Variants
-
POLD1 MUTATION
POLD1 MUTATION - Associated Disease
- Malignant neoplasm of endometrium
- Source Database
- DisGeNET
- Description
- Recently, a novel germline mutation in the POLD1 gene that encodes the catalytic subunit of DNA polymerase δ was described in several families with multiple cases of endometrial cancer.
- Pubmed
- 24838932
- 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
- 6
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00162865123248182
Drugs