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 cancer
Source Database
DisGeNET
Description
An adenomatous polyposis coli (APC) gene variant (I1307K allele), which was recently reported in 1 in 17 Ashkenazi Jewish persons, may double the risk for colorectal cancer in that population.
Pubmed
10343885
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.24
Year of publication
1999
Drugs