Annotation Detail
Information
- Associated Genes
- TXNRD2
- Associated Variants
-
DIO2 p.Thr92Ala (p.T92A)
(
ENST00000557010.5,
ENST00000557125.1,
ENST00000438257.9 )
TXNRD2 p.Ala66Ser (p.A66S) ( ENST00000334363.14, ENST00000400518.5, ENST00000400519.6, ENST00000400521.7, ENST00000400525.6, ENST00000491939.6, ENST00000542719.6 )
GPX1 p.Pro200Leu (p.P200L), ENSG00000290318 c.*319C>T ( ENST00000419349.3, ENST00000419783.3, ENST00000496791.3, ENST00000643797.2, ENST00000646881.3, ENST00000703795.1, ENST00000703796.1, ENST00000704356.1, ENST00000704374.1, ENST00000704375.1, ENST00000704376.1, ENST00000704377.1, ENST00000704378.1 )
GPX1 c.-46C>T, ENSG00000290318 c.465-577C>T ( ENST00000419783.3, ENST00000496791.3, ENST00000643797.2, ENST00000646881.3, ENST00000703795.1, ENST00000704356.1, ENST00000704375.1, ENST00000704377.1, ENST00000704378.1 )
ENSG00000290318 c.465-1180A>G
DIO2 p.Thr92Ala (p.T92A) ( ENST00000438257.9, ENST00000557010.5, ENST00000557125.1 )
TXNRD2 p.Ala66Ser (p.A66S) ( ENST00000334363.14, ENST00000400518.5, ENST00000400519.6, ENST00000400521.7, ENST00000400525.6, ENST00000491939.6, ENST00000542719.6 )
GPX1 p.Pro200Leu (p.P200L), ENSG00000290318 c.*319C>T ( ENST00000419349.3, ENST00000419783.3, ENST00000496791.3, ENST00000643797.2, ENST00000646881.3, ENST00000703795.1, ENST00000703796.1, ENST00000704356.1, ENST00000704374.1, ENST00000704375.1, ENST00000704376.1, ENST00000704377.1, ENST00000704378.1 )
GPX1 c.-46C>T, ENSG00000290318 c.465-577C>T ( ENST00000419783.3, ENST00000496791.3, ENST00000643797.2, ENST00000646881.3, ENST00000703795.1, ENST00000704356.1, ENST00000704375.1, ENST00000704377.1, ENST00000704378.1 )
ENSG00000290318 c.465-1180A>G - Associated Disease
- Kashin-Beck Disease
- Source Database
- DisGeNET
- Description
- In this study, we showed that single SNPs in the genes GPX1 (rs1050450, rs1800668 and rs3811699), TrxR2 (rs5748469), and DIO2 (rs225014) may not be significantly associated with KBD in a Tibetan population.
- Pubmed
- 24058403
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs