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
Carcinogenesis
Source Database
DisGeNET
Description
To assess the risk of this common APC allelic variant in colorectal carcinogenesis, we have analyzed a large cohort of unselected Ashkenazi Jewish subjects with adenomatous polyps and.or colorectal cancer, for the APC I1307K polymorphism.
Pubmed
9973276
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0466880019978122
Year of publication
1999
Drugs