Annotation Detail
Information
- Associated Genes
- VDR
- Associated Variants
-
VDR MUTATION
VDR 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 )
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 ) - Associated Disease
- Thyroid carcinoma
- Source Database
- DisGeNET
- Description
- Patients with thyroid carcinoma (n = 172) (n = 132 for papillary and n = 40 for follicular) and HC (n = 321) were genotyped for the ApaI (rs7975232), TaqI (rs731236), BsmI (rs1544410), and FokI (rs10735810) polymorphisms within the VDR gene and correlated with 25(OH)D(3) and 1,25(OH)(2)D(3) plasma levels.
- Pubmed
- 19499989
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2009
Drugs