Annotation Detail

Information
Associated Genes
IGF1
Associated Variants
rs5742612 ( ENST00000644491.1 )
IGF1R p.Glu1043= (p.E1043=) ( ENST00000649865.1, ENST00000650285.1 )
GH1 c.456+90T>A ( ENST00000351388.8, ENST00000458650.6, ENST00000342364.8, ENST00000323322.10, ENST00000617086.1 )
IGFBP3 p.Ala32Gly (p.A32G) ( ENST00000381083.9, ENST00000381086.9, ENST00000613132.5 )
rs5742612 ( ENST00000644491.1 )
IGF1R p.Glu1043= (p.E1043=) ( ENST00000649865.1, ENST00000650285.1 )
GH1 c.456+90T>A ( ENST00000323322.10, ENST00000342364.8, ENST00000351388.8, ENST00000458650.6, ENST00000617086.1 )
IGFBP3 p.Ala32Gly (p.A32G) ( ENST00000381083.9, ENST00000381086.9, ENST00000613132.5 )
Associated Disease
Polyp of large intestine
Source Database
DisGeNET
Description
We examined the risk of colorectal polyps in relation to body size factors and candidate polymorphisms in selected genes of insulin-like growth factor (IGF1) (rs5742612), IGF1 receptor (IGF1R) (rs2229765), IGF binding protein 3 (IGFBP3) (rs2854746) and growth hormone (GH1) (rs2665802).
Pubmed
20580999
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00081432561624091
Year of publication
2010
Drugs