Annotation Detail
Information
- Associated Genes
- SOD2
- Associated Variants
-
MDM2 c.14+309T>G
(
ENST00000393412.7,
ENST00000258148.11,
ENST00000258149.11 )
IL1B c.-118C>T
UGT1A9 c.855+9535T>G, UGT1A7 p.Asn129Lys (p.N129K), UGT1A8 c.855+63762T>G, UGT1A10 c.855+44947T>G ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000354728.5 )
UGT1A9 c.855+9770T>C, UGT1A7 p.Trp208Arg (p.W208R), UGT1A8 c.855+63997T>C, UGT1A10 c.855+45182T>C ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000354728.5 )
SOD2 p.Val16Ala (p.V16A) ( ENST00000337404.8, ENST00000367054.6, ENST00000367055.8, ENST00000444946.6, ENST00000452684.2, ENST00000538183.7, ENST00000546087.5 )
HFE p.Cys282Tyr (p.C282Y) ( ENST00000357618.10, ENST00000349999.8, ENST00000353147.9, ENST00000488199.5, ENST00000397022.7, ENST00000352392.8, ENST00000470149.5, ENST00000317896.11, ENST00000309234.11, ENST00000461397.6, ENST00000336625.12, ENST00000485729.2, ENST00000714164.1, ENST00000714170.1, ENST00000714172.1, ENST00000714174.1 )
MDM2 c.14+309T>G ( ENST00000258148.11, ENST00000258149.11, ENST00000393412.7 )
IL1B c.-118C>T
UGT1A9 c.855+9535T>G, UGT1A7 p.Asn129Lys (p.N129K), UGT1A8 c.855+63762T>G, UGT1A10 c.855+44947T>G ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000354728.5 )
UGT1A9 c.855+9770T>C, UGT1A7 p.Trp208Arg (p.W208R), UGT1A8 c.855+63997T>C, UGT1A10 c.855+45182T>C ( ENST00000344644.10, ENST00000373445.1, ENST00000373450.5, ENST00000373426.4, ENST00000354728.5 )
SOD2 p.Val16Ala (p.V16A) ( ENST00000337404.8, ENST00000367054.6, ENST00000367055.8, ENST00000444946.6, ENST00000452684.2, ENST00000538183.7, ENST00000546087.5 )
HFE p.Cys282Tyr (p.C282Y) ( ENST00000309234.11, ENST00000317896.11, ENST00000336625.12, ENST00000349999.8, ENST00000352392.8, ENST00000353147.9, ENST00000357618.10, ENST00000397022.7, ENST00000461397.6, ENST00000470149.5, ENST00000485729.2, ENST00000488199.5, ENST00000714164.1, ENST00000714170.1, ENST00000714172.1, ENST00000714174.1 ) - Associated Disease
- liver carcinoma
- Source Database
- DisGeNET
- Description
- Six SNPs of five genes (rs1800562 of HFE, rs17868323 and rs11692021 of UGT1A7, rs2279744 of MDM2, rs1143627 of IL-1B, and rs4880 of MnSOD) showed overall significant associations with HCC.
- Pubmed
- 21240526
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.128729747168288
- Year of publication
- 2011
Drugs