Annotation Detail

Information
Associated Genes
INS
Associated Variants
INS c.-23T>A, INS-IGF2 c.-17-6T>A ( ENST00000397270.1, ENST00000381330.5, ENST00000397262.5, ENST00000250971.7 )
CLEC16A c.2641+18780G>A ( ENST00000703130.1, ENST00000409790.6 )
CTLA4 c.*1148+236G>A
PPDPFL c.*140A>G ( ENST00000303202.8, ENST00000399653.8, ENST00000517663.5, ENST00000522267.6 )
INS c.-23T>A, INS-IGF2 c.-17-6T>A ( ENST00000397270.1, ENST00000250971.7, ENST00000381330.5, ENST00000397262.5 )
CLEC16A c.2641+18780G>A ( ENST00000409790.6, ENST00000703130.1 )
CTLA4 c.*1148+236G>A
PPDPFL c.*140A>G ( ENST00000303202.8, ENST00000399653.8, ENST00000517663.5, ENST00000522267.6 )
Associated Disease
Autoimmune thyroid disease
Source Database
DisGeNET
Description
Furthermore, a joint analysis, with the INS and CTLA4 SNPs, revealed that CTLA4 rs3087243, ERBB3 rs2292399, and CLEC16A rs2903692, but not INS rs689, were significant risk factors for the cooccurrence of AITD in Japanese T1D.
Pubmed
18940880
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00162865123248182
Year of publication
2009
Drugs