Annotation Detail

Information
Associated Genes
APC
Associated Variants
APC p.Val1822Asp (p.V1822D) ( ENST00000512211.7, ENST00000507379.6, ENST00000508376.6, ENST00000504915.3, ENST00000257430.9, ENST00000509732.6, ENST00000713638.1, ENST00000713639.1 )
APC p.Gly2502Ser (p.G2502S) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Val1822Asp (p.V1822D) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
APC p.Gly2502Ser (p.G2502S) ( ENST00000257430.9, ENST00000504915.3, ENST00000507379.6, ENST00000508376.6, ENST00000509732.6, ENST00000512211.7, ENST00000713638.1, ENST00000713639.1 )
Associated Disease
colorectal carcinoma
Source Database
DisGeNET
Description
APC Asp1822Val and Gly2502Ser polymorphisms and risk of colorectal cancer and adenoma.
Pubmed
15824157
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0757322823104046
Year of publication
2005
Drugs