Annotation Detail

Information
Associated Genes
MUTYH
Associated Variants
MUTYH MUTATION
MUTYH MUTATION
Associated Disease
colorectal cancer
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,GAD
DisGENET score for the Gene Disease association
0.105527684373978
Drugs