Annotation Detail

Information
Associated Genes
IRAK1
Associated Variants
IRAK1 p.Phe196Ser (p.F196S) ( ENST00000369974.6, ENST00000369980.8, ENST00000393687.6, ENST00000429936.6 )
MECP2 c.63-13972A>T ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
IRAK1 p.Phe196Ser (p.F196S) ( ENST00000369974.6, ENST00000369980.8, ENST00000393687.6, ENST00000429936.6 )
MECP2 c.63-13972A>T ( ENST00000303391.11, ENST00000407218.5, ENST00000415944.4, ENST00000453960.7, ENST00000628176.2 )
Associated Disease
Giant Cell Arteritis
Source Database
DisGeNET
Description
Our data suggest that IRAK1 rs1059702 and MECP2 rs17435 genetic variants do not play a significant role in GCA susceptibility or severity.
Pubmed
24709033
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2013
Drugs