Annotation Detail

Information
Associated Genes
CDX2
Associated Variants
CDX2 MUTATION
CDX2 MUTATION
VDR p.Ile352= (p.I352=) ( ENST00000229022.9, ENST00000550325.5, ENST00000549336.6, ENST00000395324.6 )
VDR c.1025-49G>T ( ENST00000550325.5, ENST00000549336.6, ENST00000395324.6, ENST00000229022.9 )
VDR c.1024+283G>A ( ENST00000395324.6, ENST00000549336.6, ENST00000550325.5, ENST00000229022.9 )
rs11568820 ( ENST00000395324.6 )
VDR p.Ile352= (p.I352=) ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 )
VDR c.1025-49G>T ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 )
VDR c.1024+283G>A ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 )
rs11568820 ( ENST00000395324.6 )
Associated Disease
Epithelial ovarian cancer
Source Database
DisGeNET
Description
The association of ovarian cancer risk with polymorphisms in the vitamin D receptor (VDR) gene, including rs10735810 (FokI), rs11568820 (Cdx-2), rs1544410 (BsmI), rs7975232 (ApaI), rs731236 (TaqI), and BsmI-ApaI-TaqI combined genotypes, was examined among 313 women with epithelial ovarian carcinoma and 574 controls.
Pubmed
18086759
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2007
Drugs