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
adenoma
Source Database
DisGeNET
Description
It is therefore possible that many APC I1307K carriers with multiple adenomas have a susceptibility to tumours additional to that resulting from the A(8) tract.
Pubmed
12533824
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.190731621915964
Year of publication
2003
Drugs