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
Diabetes Mellitus, Insulin-Dependent
Source Database
DisGeNET
Description
Recently, there has been increasing evidence shown that a non-synonymous exchange (Gly307Ser/rs763361) of the CD226 gene on chromosome 18q22 is linked to several autoimmune diseases (ADs) including type 1 diabetes (T1D), celiac disease (CED), rheumatoid arthritis (RA), multiple sclerosis (MS), Grave's disease, Wegener's granulomatosis (WG), psoriasis, and primary sicca syndrome (pSS).
Pubmed
23073294
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.134278136741733
Year of publication
2013
Drugs