Annotation Detail

Information
Associated Genes
ACAN
Associated Variants
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 p.? (p.?) ( ENST00000395324.6, ENST00000549336.6, ENST00000550325.5, ENST00000229022.9 )
VDR p.? (p.?) ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 )
VDR p.? (p.?) ( ENST00000229022.9, ENST00000549336.6, ENST00000395324.6, ENST00000550325.5 )
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 p.? (p.?) ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 )
VDR p.? (p.?) ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 )
VDR p.? (p.?) ( ENST00000229022.9, ENST00000395324.6, ENST00000549336.6, ENST00000550325.5 )
Associated Disease
Diabetes Mellitus, Insulin-Dependent
Source Database
DisGeNET
Description
A total of 9, 5, 3, and 7 studies were finally included in the analyses for the associations between the VDR TaqI (rs731236), FokI (rs2228570), ApaI (rs7975232), or aggrecan VNTR polymorphisms and the risk of IDD, respectively.
Pubmed
23209686
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00135720936040152
Year of publication
2012
Drugs