Annotation Detail

Information
Associated Genes
ARAP1
Associated Variants
ARID5B c.733+25009G>T ( ENST00000279873.12, ENST00000644638.1, ENST00000681100.1 )
PDE2A c.71+11685A>C ( ENST00000540345.5, ENST00000334456.10, ENST00000418754.6 )
rs2841277
PTPN2 c.1041-3210T>C ( ENST00000327283.7, ENST00000353319.8, ENST00000591115.5, ENST00000591497.5, ENST00000309660.10, ENST00000646492.1, ENST00000645191.1 )
PADI4 c.341-15T>C ( ENST00000375448.4 )
rs11900673
ANXA3 c.483+438A>G ( ENST00000264908.11, ENST00000503570.6, ENST00000512884.5 )
rs657075
TNFAIP3 p.Phe127Ser (p.F127S) ( ENST00000237289.8, ENST00000420009.6, ENST00000421450.2, ENST00000433680.2, ENST00000612899.5 )
TNFAIP3 p.Phe127Cys (p.F127C) ( ENST00000237289.8, ENST00000420009.6, ENST00000421450.2, ENST00000433680.2, ENST00000612899.5 )
rs12529514
ENSG00000272980 c.1066-16733A>G, CCR6 c.-98+7291A>G ( ENST00000400926.5 )
NFKBIE p.Val55Ala (p.V55A) ( ENST00000275015.9, ENST00000619360.6 )
ARID5B c.733+25009G>T ( ENST00000279873.12, ENST00000644638.1, ENST00000681100.1 )
PDE2A c.71+11685A>C ( ENST00000334456.10, ENST00000418754.6, ENST00000540345.5 )
rs2841277
PTPN2 c.1041-3210T>C ( ENST00000309660.10, ENST00000327283.7, ENST00000353319.8, ENST00000591115.5, ENST00000591497.5, ENST00000645191.1, ENST00000646492.1 )
PADI4 c.341-15T>C ( ENST00000375448.4 )
rs11900673
ANXA3 c.483+438A>G ( ENST00000264908.11, ENST00000503570.6, ENST00000512884.5 )
rs657075
TNFAIP3 p.Phe127Ser (p.F127S) ( ENST00000237289.8, ENST00000420009.6, ENST00000421450.2, ENST00000433680.2, ENST00000612899.5 )
TNFAIP3 p.Phe127Cys (p.F127C) ( ENST00000237289.8, ENST00000420009.6, ENST00000421450.2, ENST00000433680.2, ENST00000612899.5 )
rs12529514
ENSG00000272980 c.1066-16733A>G, CCR6 c.-98+7291A>G ( ENST00000400926.5 )
NFKBIE p.Val55Ala (p.V55A) ( ENST00000275015.9, ENST00000619360.6 )
Associated Disease
rheumatoid arthritis
Source Database
DisGeNET
Description
Genetic factors regarded as putative risk factors were RA-susceptible polymorphisms identified by the Japanese GWAS meta-analysis, including HLA-DRB1 (shared epitope, SE), rs2240340 (PADI4), rs2230926 (TNFAIP3), rs3093024 (CCR6), rs11900673 (B3GNT2), rs2867461 (ANXA3), rs657075 (CSF2), rs12529514 (CD83), rs2233434 (NFKBIE), rs10821944 (ARID5B), rs3781913 (PDE2A-ARAP1), rs2841277 (PLD4) and rs2847297 (PTPN2).
Pubmed
23577190
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2013
Drugs