Annotation Detail

Information
Associated Genes
PTPRJ
Associated Variants
PTPRJ p.Arg326Gln (p.R326Q) ( ENST00000698881.1, ENST00000418331.7, ENST00000440289.6 )
PTPRJ p.Arg326Gln (p.R326Q) ( ENST00000418331.7, ENST00000440289.6, ENST00000698881.1 )
Associated Disease
colorectal cancer
Source Database
DisGeNET
Description
Compared with the major homozygotes at the Arg326Gln SNP in PTPRJ, a likely homologue of the mouse SCC1 (susceptible to colon cancer), Arg/Gln or Gln/Gln genotypes exhibited an increased colorectal cancer risk with adjusted odds ratios (aOR) of 1.71 (P = 0.021) and 3.74 (P = 4.14 x 10(-4)), respectively.
Pubmed
19672627
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00345279946692324
Year of publication
2010
Drugs