Annotation Detail

Information
Associated Genes
DIO2
Associated Variants
DIO2 p.Thr92Ala (p.T92A) ( ENST00000557010.5, ENST00000557125.1, ENST00000438257.9 )
DIO2 c.-53-398G>C ( ENST00000557010.5 )
DIO2 c.-53-398G>A ( ENST00000557010.5 )
DIO2 p.Thr92Ala (p.T92A) ( ENST00000438257.9, ENST00000557010.5, ENST00000557125.1 )
DIO2 c.-53-398G>C ( ENST00000557010.5 )
DIO2 c.-53-398G>A ( ENST00000557010.5 )
Associated Disease
Osteoarthritis of hip
Source Database
DisGeNET
Description
Confirmation and replication by association in the additional osteoarthritis studies indicated a common DIO2 haplotype, exclusively containing the minor allele of rs225014 and common allele of rs12885300, with a combined recessive odds ratio of 1.79, 95% confidence interval (CI) 1.37-2.34 with P = 2.02 x 10(-5) in female cases with advanced/symptomatic hip osteoarthritis.
Pubmed
18334578
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2008
Drugs