Annotation Detail
Information
- Associated Genes
- MLH1
- Associated Variants
-
MLH1 MUTATION
MLH1 MUTATION - Associated Disease
- Turcot syndrome (disorder)
- Source Database
- DisGeNET
- Description
- This study compared two biomarkers in tumours with mismatch repair deficiency; quantification of methylation of the MLH1 promoter region using a novel assay and BRAF c.1799T>A, p.(Val600Glu) mutation status in the identification of constitutional mutations.
- Pubmed
- 25280751
- Section of the abstract supporting the evidence
- BACKGROUND AND AIMS
- Number of the section of the abstract supporting the evidence
- 1
- Number of the sentence supporting the evidence
- 7
- Original source reporting the Gene Disease association
- BeFree,CLINVAR,CTD_human,ORPHANET,UNIPROT
- DisGENET score for the Gene Disease association
- 0.492486326115694
Drugs