Annotation Detail

Information
Associated Genes
MUTYH
Associated Variants
MUTYH MUTATION
MUTYH MUTATION
Associated Disease
colorectal carcinoma
Source Database
DisGeNET
Description
To uncover novel causative genes in patients with unexplained adenomatous polyposis, a model disease for colorectal cancer, we performed a genome-wide analysis of germline copy number variants (CNV) in a large, well characterized APC and MUTYH mutation negative patient cohort followed by a targeted next generation sequencing (NGS) approach.
Pubmed
25219767
Section of the abstract supporting the evidence
ALL_TEXT_1/3
Number of the section of the abstract supporting the evidence
1
Number of the sentence supporting the evidence
1
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0276870709521909
Drugs