Annotation Detail

Information
Associated Genes
MDM2
Associated Variants
MDM2 c.14+309T>G ( ENST00000393412.7, ENST00000258148.11, ENST00000258149.11 )
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 )
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
Two SNPs (rs1800562 of HFE and rs2279744 of MDM2) were associated with HCC with moderate epidemiological evidence and deserve further study and additional biological and clinical assessment.
Pubmed
21240526
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.0215073781993904
Year of publication
2011
Drugs