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
polyps
Source Database
DisGeNET
Description
After adjustment for age, APC I1307K carriers were significantly more likely than noncarriers to have polyps in their surgical specimen (51.3 percent vs. 32.6 percent, P = 0.002).
Pubmed
16228836
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.022016586203497
Year of publication
2005
Drugs