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
- colon carcinoma
- 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
- 0.121628651232482
- Year of publication
- 2010
Drugs