Annotation Detail

Information
Associated Genes
LACC1
Associated Variants
LACC1 p.Ile254Val (p.I254V) ( ENST00000325686.7, ENST00000441843.5 )
PTPN22 p.Trp620Arg (p.W620R) ( ENST00000525799.1, ENST00000538253.5, ENST00000420377.6, ENST00000528414.5, ENST00000460620.5, ENST00000359785.10 )
LACC1 p.Ile254Val (p.I254V) ( ENST00000325686.7, ENST00000441843.5 )
PTPN22 p.Trp620Arg (p.W620R) ( ENST00000359785.10, ENST00000420377.6, ENST00000460620.5, ENST00000525799.1, ENST00000528414.5, ENST00000538253.5 )
Associated Disease
ulcerative colitis
Source Database
DisGeNET
Description
SNP-SNP interaction analyses showed that the combination of SNPs in the PTPN22 (rs2476601) and C13orf31 (rs3764147) genes increase the risk for UC.
Pubmed
23974994
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00263847385068233
Year of publication
2014
Drugs