Annotation Detail
Information
- Associated Genes
- MUTYH
- Associated Variants
-
MUTYH MUTATION
MUTYH MUTATION - Associated Disease
- colorectal carcinoma
- Source Database
- DisGeNET
- Description
- In 6 of the 21 families (29%), we identified 7 mutations in 3 known CRC predisposing genes including MLH1 (5 patients), MSH2 (1 patient), and MUTYH (biallelic, 1 patient), five of which were reported as pathogenic.
- Pubmed
- 25892863
- Section of the abstract supporting the evidence
- RESULTS
- Number of the section of the abstract supporting the evidence
- 3
- Number of the sentence supporting the evidence
- 6
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0276870709521909
Drugs