Annotation Detail
Information
- Associated Genes
- POLD1
- Associated Variants
-
POLD1 MUTATION
POLD1 MUTATION - Associated Disease
- Multiple polyps
- Source Database
- DisGeNET
- Description
- By using whole-genome sequencing, germline mutations in the POLE and POLD1 genes have been found to be responsible for a new form of CRC genetic predisposition called polymerase proofreading-associated polyposis.
- Pubmed
- 24587672
- Section of the abstract supporting the evidence
- ALL_TEXT_3/3
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 8
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
Drugs