Annotation Detail
Information
- Associated Genes
- CYP2R1
- Associated Variants
-
CYP2R1 p.Ser59= (p.S59=)
(
ENST00000334636.10 )
rs10741657
CYP27B1 c.1137-29T>C ( ENST00000228606.9, ENST00000713544.1, ENST00000713545.1, ENST00000546567.5 )
NC_000012.12:g.57768302G>T
CYP24A1 c.*10+967A>G ( ENST00000216862.8, ENST00000395954.3, ENST00000395955.7 )
CYP24A1 p.Ala184= (p.A184=) ( ENST00000216862.8, ENST00000395954.3, ENST00000395955.7 )
CYP24A1 c.259-105G>C ( ENST00000216862.8, ENST00000395955.7 )
CYP2R1 p.Ser59= (p.S59=) ( ENST00000334636.10 )
rs10741657
CYP27B1 c.1137-29T>C ( ENST00000228606.9, ENST00000546567.5, ENST00000713544.1, ENST00000713545.1 )
NC_000012.12:g.57768302G>T
CYP24A1 c.*10+967A>G ( ENST00000216862.8, ENST00000395954.3, ENST00000395955.7 )
CYP24A1 p.Ala184= (p.A184=) ( ENST00000216862.8, ENST00000395954.3, ENST00000395955.7 )
CYP24A1 c.259-105G>C ( ENST00000216862.8, ENST00000395955.7 ) - Associated Disease
- differentiated thyroid gland carcinoma
- Source Database
- DisGeNET
- Description
- German patients (n=253) with DTC (papillary thyroid carcinoma [PTC] and follicular thyroid carcinoma [FTC]) and HC (n=302) were genotyped for polymorphisms within the vitamin D metabolizing enzymes such as 25-hydroxylase (CYP2R1[rs12794714, rs10741657]), 25-hydroxyvitamin D-1α-hydroxylase (CYP27B1[rs10877012, rs4646536]), and 25-hydroxyvitamin D 24-hydrolase (CYP24A1[rs927650, rs2248137, rs2296241]).
- Pubmed
- 22690899
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2012
Drugs