Annotation Detail
Information
- Associated Genes
- CD247
- Associated Variants
-
CD247 c.59-1380T>C
(
ENST00000700158.1,
ENST00000700109.1,
ENST00000362089.10,
ENST00000700106.1,
ENST00000700105.1,
ENST00000700134.1,
ENST00000700108.1,
ENST00000392122.4,
ENST00000700159.1,
ENST00000700142.1,
ENST00000700165.1,
ENST00000700107.1,
ENST00000700160.1 )
CD247 c.59-10421A>C ( ENST00000700108.1, ENST00000700134.1, ENST00000700106.1, ENST00000700105.1, ENST00000362089.10, ENST00000700109.1, ENST00000700158.1, ENST00000700107.1, ENST00000700160.1, ENST00000700165.1, ENST00000700142.1, ENST00000392122.4, ENST00000700159.1 )
NUS1 p.Leu210Ser (p.L210S) ( ENST00000368494.4 )
NUS1 p.Leu210Ter (p.L210*) ( ENST00000368494.4 )
CD247 c.59-1380T>C ( ENST00000362089.10, ENST00000392122.4, ENST00000700105.1, ENST00000700106.1, ENST00000700107.1, ENST00000700108.1, ENST00000700109.1, ENST00000700134.1, ENST00000700142.1, ENST00000700158.1, ENST00000700159.1, ENST00000700160.1, ENST00000700165.1 )
CD247 c.59-10421A>C ( ENST00000362089.10, ENST00000392122.4, ENST00000700105.1, ENST00000700106.1, ENST00000700107.1, ENST00000700108.1, ENST00000700109.1, ENST00000700134.1, ENST00000700142.1, ENST00000700158.1, ENST00000700159.1, ENST00000700160.1, ENST00000700165.1 )
NUS1 p.Leu210Ser (p.L210S) ( ENST00000368494.4 )
NUS1 p.Leu210Ter (p.L210*) ( ENST00000368494.4 ) - Associated Disease
- Autoimmune Diseases
- Source Database
- DisGeNET
- Description
- Given the role of CD247 in the response of the T cells, its entailment in autoimmune diseases and in order to better clarify the role of this gene in RA susceptibility, we aimed to analyze CD247 gene variants previously associated with other autoimmune diseases (rs1052237, rs2056626 and rs864537) in a large independent European Caucasian population.
- Pubmed
- 23861880
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00399568321108385
- Year of publication
- 2013
Drugs