Annotation Detail
Information
- Associated Genes
- CD226
- Associated Variants
-
CD226 p.Ser307Cys (p.S307C)
(
ENST00000280200.8,
ENST00000577287.5,
ENST00000581982.5,
ENST00000582621.6 )
CD226 p.Ser307Gly (p.S307G) ( ENST00000280200.8, ENST00000577287.5, ENST00000581982.5, ENST00000582621.6 )
CD226 p.Ser307Cys (p.S307C) ( ENST00000280200.8, ENST00000577287.5, ENST00000581982.5, ENST00000582621.6 )
CD226 p.Ser307Gly (p.S307G) ( ENST00000280200.8, ENST00000577287.5, ENST00000581982.5, ENST00000582621.6 ) - Associated Disease
- Autoimmune Diseases
- Source Database
- DisGeNET
- Description
- A nonsynonymous polymorphism in exon 7 of the gene encoding the lymphocyte cell-surface CD226 (DNAM1) receptor, Gly307Ser (rs763361), has recently been identified as conferring risk to many autoimmune disorders.
- Pubmed
- 21521299
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0107157166646349
- Year of publication
- 2011
Drugs