Annotation Detail
Information
- Associated Genes
- MSH6
- Associated Variants
-
MSH6 MUTATION
MSH6 MUTATION - Associated Disease
- Turcot syndrome (disorder)
- Source Database
- DisGeNET
- Description
- Tumor MMR-deficiency was observed for 22 cases [69 %; 95 % confidence interval (CI) 50-83 %], with the highest prevalence of MMR-deficiency in tumors from MSH2 mutation carriers (19/23, 83 %) compared with MLH1 and MSH6 carriers combined (3/9, 33 %; p = 0.01).
- Pubmed
- 25117503
- 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,CLINVAR,CTD_human,ORPHANET
- DisGENET score for the Gene Disease association
- 0.363800186209124
Drugs