Annotation Detail
Information
- Associated Genes
- IL1RN
- Associated Variants
-
TNFRSF1A c.-610T>G
IFNG c.115-483A>T ( ENST00000229135.4 )
MAP3K14 c.256+203A>G ( ENST00000376926.8, ENST00000617331.3, ENST00000344686.8 )
rs4848306
rs4251961
TLR9 c.4-44A>G ( ENST00000360658.3 )
rs187084
TLR2 c.-1555+1614T>A ( ENST00000260010.7, ENST00000642580.1, ENST00000642700.2, ENST00000643501.2, ENST00000646219.2, ENST00000646900.2, ENST00000714431.1, ENST00000714432.1, ENST00000714433.1, ENST00000714434.1, ENST00000714435.1, ENST00000714436.1 )
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 )
TLR2 c.-1408-706C>A ( ENST00000260010.7, ENST00000642580.1, ENST00000642700.2, ENST00000643501.2, ENST00000646219.2, ENST00000646900.2, ENST00000714431.1, ENST00000714432.1, ENST00000714433.1, ENST00000714434.1, ENST00000714435.1, ENST00000714436.1 )
TLR2 p.Asn199= (p.N199=) ( ENST00000260010.7, ENST00000642580.1, ENST00000642700.2, ENST00000643501.2, ENST00000646219.2, ENST00000646900.2, ENST00000714431.1, ENST00000714432.1, ENST00000714433.1, ENST00000714434.1, ENST00000714435.1, ENST00000714436.1 )
CD14 c.-221-39T>C ( ENST00000498971.7, ENST00000512545.2, ENST00000519715.2 )
rs6927172
NC_000006.12:g.31575324G>A
NC_000006.12:g.52186235G>A
rs10499563
rs11465996
ENSG00000285082 c.140+3275G>A, TLR4 c.261-385G>A ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 )
ENSG00000285082 c.140+9805T>C, TLR4 c.*3886T>C ( ENST00000355622.8 )
TNFRSF1A c.-610T>G
IFNG c.115-483A>T ( ENST00000229135.4 )
MAP3K14 c.256+203A>G ( ENST00000344686.8, ENST00000376926.8, ENST00000617331.3 )
rs4848306
rs4251961
TLR9 c.4-44A>G ( ENST00000360658.3 )
rs187084
TLR2 c.-1555+1614T>A ( ENST00000260010.7, ENST00000642580.1, ENST00000642700.2, ENST00000643501.2, ENST00000646219.2, ENST00000646900.2, ENST00000714431.1, ENST00000714432.1, ENST00000714433.1, ENST00000714434.1, ENST00000714435.1, ENST00000714436.1 )
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 )
TLR2 c.-1408-706C>A ( ENST00000260010.7, ENST00000642580.1, ENST00000642700.2, ENST00000643501.2, ENST00000646219.2, ENST00000646900.2, ENST00000714431.1, ENST00000714432.1, ENST00000714433.1, ENST00000714434.1, ENST00000714435.1, ENST00000714436.1 )
TLR2 p.Asn199= (p.N199=) ( ENST00000260010.7, ENST00000642580.1, ENST00000642700.2, ENST00000643501.2, ENST00000646219.2, ENST00000646900.2, ENST00000714431.1, ENST00000714432.1, ENST00000714433.1, ENST00000714434.1, ENST00000714435.1, ENST00000714436.1 )
CD14 c.-221-39T>C ( ENST00000498971.7, ENST00000512545.2, ENST00000519715.2 )
rs6927172
NC_000006.12:g.31575324G>A
NC_000006.12:g.52186235G>A
rs10499563
rs11465996
ENSG00000285082 c.140+3275G>A, TLR4 c.261-385G>A ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 )
ENSG00000285082 c.140+9805T>C, TLR4 c.*3886T>C ( ENST00000355622.8 ) - Associated Disease
- ulcerative colitis
- Source Database
- DisGeNET
- Description
- Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs3804099, rs11938228, rs1816702, rs4696480), TLR4 (rs5030728, rs1554973), TLR9 (rs187084, rs352139), LY96 (MD-2) (rs11465996), CD14 (rs2569190), MAP3K14 (NIK) (rs7222094)), TNF-α signaling (TNFA (TNF-α) (rs361525), TNFRSF1A (TNFR1) (rs4149570), TNFAIP3(A20) (rs6927172)) and other cytokines regulated by NFκB (IL1B (rs4848306), IL1RN (rs4251961), IL6 (rs10499563), IL17A (rs2275913), IFNG (rs2430561)) were associated with response to anti-TNF therapy among patients with CD, UC or both CD and UC (P ⩽ 0.05).
- Pubmed
- 24776844
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0334521587025754
- Year of publication
- 2014
Drugs