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 novel non-synonymous (Gly307Ser) variant, rs763361, of the CD226 gene on chromosome 18q22 was recently shown to be associated with multiple autoimmune diseases.
Pubmed
20887380
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0107157166646349
Year of publication
2011
Drugs