Annotation Detail
Information
- Associated Genes
- POLD1
- Associated Variants
-
POLD1 MUTATION
POLD1 MUTATION - Associated Disease
- Adenoma of large intestine
- Source Database
- DisGeNET
- Description
- Missense mutations in the polymerase genes POLE and POLD1 have recently been identified as rare cause of multiple colorectal adenomas and carcinomas, a condition termed polymerase proofreading-associated polyposis (PPAP).
- Pubmed
- 25529843
- 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
- DisGENET score for the Gene Disease association
- 0.00135720936040152
Drugs