Annotation Detail

Information
Associated Genes
APC
Associated Variants
APC p.Glu1317Gln (p.E1317Q) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Glu1317Gln (p.E1317Q) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
Associated Disease
Adenomatous Polyps
Source Database
DisGeNET
Description
The APC E1317Q variant in adenomatous polyps and colorectal cancers.
Pubmed
14578138
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.127067420195752
Year of publication
2003
Drugs