Annotation Detail
Information
- Associated Genes
- PMS2
- Associated Variants
-
PMS2 MUTATION
PMS2 MUTATION - Associated Disease
- Turcot syndrome (disorder)
- Source Database
- DisGeNET
- Description
- PMS2 and MSH6 loss covered 100% of cases with mismatch repair deficiency.
- Pubmed
- 26619103
- 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,CLINVAR,CTD_human,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.484071628081205
Drugs