Annotation Detail

Information
Associated Genes
MUTYH
Associated Variants
MUTYH MUTATION
MUTYH MUTATION
Associated Disease
colorectal carcinoma
Source Database
DisGeNET
Description
Biallelic p.(Tyr179Cys) MUTYH germline mutations were found in one patient (frequency 1.18%) with CRC, urothelial carcinoma and a sebaceous gland carcinoma.
Pubmed
24518836
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
5
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0276870709521909
Drugs