Annotation Detail
Information
- Associated Genes
- TLR2
- Associated Variants
-
rs28362491
rs28362491
TNFRSF1A c.-610T>G
NFKBIA c.*126G>A ( ENST00000557140.5, ENST00000697961.1, ENST00000557389.1, ENST00000216797.10 )
PTPN22 p.Trp620Arg (p.W620R) ( ENST00000525799.1, ENST00000538253.5, ENST00000420377.6, ENST00000528414.5, ENST00000460620.5, ENST00000359785.10 )
IL6R c.950-1722C>T ( ENST00000368485.8, ENST00000344086.8 )
rs3024505
IL23R p.Arg381Gln (p.R381Q) ( ENST00000697230.1, ENST00000697164.1, ENST00000697163.1, ENST00000697154.1, ENST00000425614.3, ENST00000347310.10, ENST00000697165.1 )
PPARG p.Pro12Ala (p.P12A) ( ENST00000309576.11, ENST00000397010.7, ENST00000397000.6, ENST00000287820.10, ENST00000397015.7, ENST00000397026.7, ENST00000643197.2, ENST00000643888.2, ENST00000644622.2, ENST00000651735.1, ENST00000652098.1, ENST00000652431.1, ENST00000681982.1, ENST00000682446.1, ENST00000683586.1, ENST00000683699.1 )
TLR9 c.4-44A>G ( ENST00000360658.3 )
TLR2 c.-1409+324T>C ( ENST00000260010.7, ENST00000642580.1, ENST00000642700.2, ENST00000643501.2, ENST00000646219.2, ENST00000646900.2, ENST00000714431.1, ENST00000714432.1, ENST00000714433.1, ENST00000714434.1, ENST00000714435.1, ENST00000714436.1 )
TNF c.-488G>A
rs11465996
ENSG00000285082 c.140+1723T>C, TLR4 c.260+1723T>C ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 )
ENSG00000285082 c.140+9805T>C, TLR4 c.*3886T>C ( ENST00000355622.8 )
TNFRSF1A c.-610T>G
NFKBIA c.*126G>A ( ENST00000216797.10, ENST00000557140.5, ENST00000557389.1, ENST00000697961.1 )
PTPN22 p.Trp620Arg (p.W620R) ( ENST00000359785.10, ENST00000420377.6, ENST00000460620.5, ENST00000525799.1, ENST00000528414.5, ENST00000538253.5 )
IL6R c.950-1722C>T ( ENST00000344086.8, ENST00000368485.8 )
rs3024505
IL23R p.Arg381Gln (p.R381Q) ( ENST00000347310.10, ENST00000425614.3, ENST00000697154.1, ENST00000697163.1, ENST00000697164.1, ENST00000697165.1, ENST00000697230.1 )
PPARG p.Pro12Ala (p.P12A) ( ENST00000287820.10, ENST00000309576.11, ENST00000397000.6, ENST00000397010.7, ENST00000397015.7, ENST00000397026.7, ENST00000643197.2, ENST00000643888.2, ENST00000644622.2, ENST00000651735.1, ENST00000652098.1, ENST00000652431.1, ENST00000681982.1, ENST00000682446.1, ENST00000683586.1, ENST00000683699.1 )
TLR9 c.4-44A>G ( ENST00000360658.3 )
TLR2 c.-1409+324T>C ( ENST00000260010.7, ENST00000642580.1, ENST00000642700.2, ENST00000643501.2, ENST00000646219.2, ENST00000646900.2, ENST00000714431.1, ENST00000714432.1, ENST00000714433.1, ENST00000714434.1, ENST00000714435.1, ENST00000714436.1 )
TNF c.-488G>A
rs11465996
ENSG00000285082 c.140+1723T>C, TLR4 c.260+1723T>C ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 )
ENSG00000285082 c.140+9805T>C, TLR4 c.*3886T>C ( ENST00000355622.8 ) - Associated Disease
- Crohn Disease
- Source Database
- DisGeNET
- Description
- The polymorphisms TLR2 (rs1816702), NFKB1 (rs28362491), TNFRSF1A (rs4149570), IL6R (rs4537545), IL23R (rs11209026) and PTPN22 (rs2476601) were associated with risk of CD and the polymorphisms TLR2 (rs1816702), TLR4 (rs1554973 and rs12377632), TLR9 (rs352139), LY96 (rs11465996), NFKBIA (rs696), TNFA (rs1800629), TNFRSF1A (rs4149570), IL10 (rs3024505), IL23R (rs11209026), PTPN22 (rs2476601) and PPARG (rs1801282) were associated with risk of UC.
- Pubmed
- 24971461
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00872974716828791
- Year of publication
- 2014
Drugs