Annotation Detail
Information
- Associated Genes
- NR1I2
- Associated Variants
-
NR1I2 MUTATION
NR1I2 MUTATION
ENSG00000285585 c.*2-26220G>A ( ENST00000466380.6 )
ENSG00000285585 c.*2-26041C>T ( ENST00000466380.6 )
ENSG00000285585 c.*2-25412A>G ( ENST00000466380.6 )
ENSG00000285585 c.*2-25037C>A ( ENST00000393716.8, ENST00000466380.6 )
ENSG00000285585 c.*129G>A, NR1I2 p.Gly75Arg (p.G75R) ( ENST00000337940.4, ENST00000393716.8, ENST00000466380.6 )
NR1I2 c.912-93G>A ( ENST00000337940.4, ENST00000393716.8, ENST00000466380.6 )
NR1I2 c.1055-17C>G ( ENST00000337940.4, ENST00000393716.8, ENST00000466380.6 )
NR1I2 c.1055-17C>T ( ENST00000337940.4, ENST00000393716.8, ENST00000466380.6 )
NR1I2 c.*1195A>C ( ENST00000337940.4, ENST00000393716.8, ENST00000466380.6 )
ENSG00000285585 c.*2-26220G>A ( ENST00000466380.6 )
ENSG00000285585 c.*2-26041C>T ( ENST00000466380.6 )
ENSG00000285585 c.*2-25412A>G ( ENST00000466380.6 )
ENSG00000285585 c.*2-25037C>A ( ENST00000393716.8, ENST00000466380.6 )
ENSG00000285585 c.*129G>A, NR1I2 p.Gly75Arg (p.G75R) ( ENST00000337940.4, ENST00000393716.8, ENST00000466380.6 )
NR1I2 c.912-93G>A ( ENST00000337940.4, ENST00000393716.8, ENST00000466380.6 )
NR1I2 c.1055-17C>G ( ENST00000337940.4, ENST00000393716.8, ENST00000466380.6 )
NR1I2 c.1055-17C>T ( ENST00000337940.4, ENST00000393716.8, ENST00000466380.6 )
NR1I2 c.*1195A>C ( ENST00000337940.4, ENST00000393716.8, ENST00000466380.6 ) - Associated Disease
- Crohn Disease
- Source Database
- DisGeNET
- Description
- Genomic DNA from 2823 individuals of Caucasian origin including 859 patients with Crohn's disease (CD), 464 patients with ulcerative colitis (UC), and 1500 healthy, unrelated controls was analyzed for eight PXR/NR1I2 single nucleotide polymorphisms (SNPs) (rs12721602 (-25564), rs3814055 (-25385), rs1523128 (-24756), rs1523127 (-24381), rs45610735 = p.Gly36Arg (+106), rs6785049 (+7635), rs2276707 (+8055), and rs3814057 (+11156)).
- Pubmed
- 21830270
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00699147532563133
- Year of publication
- 2011
Drugs