Annotation Detail

Information
Associated Genes
APC
Associated Variants
APC p.Ile1307Lys (p.I1307K) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Ile1307Lys (p.I1307K) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
Associated Disease
colorectal carcinoma
Source Database
DisGeNET
Description
This excess can partially be attributed to inherited factors that are over represented in this population, such as the APC variant I1307K, which is associated with a modest increase in colorectal cancer risk.
Pubmed
16195945
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0757322823104046
Year of publication
2005
Drugs