Annotation Detail
Information
- Associated Genes
- SFXN1
- Associated Variants
-
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
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
- Haplotypes TCC, TTC and TTT of rs1050450, rs1800668 and rs3811699 in GPX1 showed a significant association with KBD and controls with P value of 0.0421, 5.0E-4 and 0.0066, respectively.
- Pubmed
- 24058403
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2013
Drugs