Annotation Detail
Information
- Associated Genes
- SOD1
- Associated Variants
-
IL19 c.-149+2474T>C
(
ENST00000656872.2,
ENST00000659642.2,
ENST00000659997.3,
ENST00000664374.2,
ENST00000659065.2 )
SOD1 c.73-1211G>A ( ENST00000270142.11, ENST00000389995.4 )
NC_000002.12:g.112838252C>G
NC_000006.12:g.52186235G>A
ENSG00000285082 c.140+4295A>G, TLR4 p.Asp299Gly (p.D299G) ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 )
ENSG00000285082 c.140+4595C>T, TLR4 p.Thr399Ile (p.T399I) ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 )
IL19 c.-149+2474T>C ( ENST00000659065.2, ENST00000659642.2, ENST00000664374.2, ENST00000656872.2, ENST00000659997.3 )
SOD1 c.73-1211G>A ( ENST00000270142.11, ENST00000389995.4 )
NC_000002.12:g.112838252C>G
NC_000006.12:g.52186235G>A
ENSG00000285082 c.140+4295A>G, TLR4 p.Asp299Gly (p.D299G) ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 )
ENSG00000285082 c.140+4595C>T, TLR4 p.Thr399Ile (p.T399I) ( ENST00000355622.8, ENST00000394487.5, ENST00000472304.2 ) - Associated Disease
- ovarian carcinoma
- Source Database
- DisGeNET
- Description
- A case-control study of 401 cases and 300 sex- and age-matched controls was performed in order to explore the role of IL1B_1473G/C (rs1143623), SOD1_7958A/G (rs4998557), TLR4_1196C/T (rs4986791), IL10_1082A/G (rs1800896), IL17A_197G/A (rs2275913), and TLR4_896A/G (rs4986790) polymorphisms in the susceptibility to colorectal cancer (n = 244), gastric carcinoma (n = 72), and ovarian cancer (n = 85).
- Pubmed
- 24446182
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00081432561624091
- Year of publication
- 2014
Drugs