Annotation Detail

Information
Associated Genes
CCND2
Associated Variants
CEP164 p.Gln1119Arg (p.Q1119R) ( ENST00000278935.8 )
ALDH2 p.Glu504Lys (p.E504K) ( ENST00000261733.7, ENST00000416293.7 )
CCND2 c.-171C>T, ENSG00000285901 c.-171C>T ( ENST00000675880.1, ENST00000261254.8 )
MDM2 c.14+309T>G ( ENST00000393412.7, ENST00000258148.11, ENST00000258149.11 )
RAD23B p.Ala249Val (p.A249V) ( ENST00000358015.8, ENST00000416373.6 )
HSPA5 c.997-13G>A ( ENST00000324460.7, ENST00000680032.1, ENST00000680272.1 )
CEP164 p.Gln1119Arg (p.Q1119R) ( ENST00000278935.8 )
ALDH2 p.Glu504Lys (p.E504K) ( ENST00000261733.7, ENST00000416293.7 )
CCND2 c.-171C>T, ENSG00000285901 c.-171C>T ( ENST00000261254.8, ENST00000675880.1 )
MDM2 c.14+309T>G ( ENST00000258148.11, ENST00000258149.11, ENST00000393412.7 )
RAD23B p.Ala249Val (p.A249V) ( ENST00000358015.8, ENST00000416373.6 )
HSPA5 c.997-13G>A ( ENST00000324460.7, ENST00000680032.1, ENST00000680272.1 )
Associated Disease
Hepatocarcinogenesis
Source Database
DisGeNET
Description
These included novel SNPs for hepatocarcinogenesis with HCV CCND2 rs1049606, RAD23B rs1805329, CEP164 rs573455, and GRP78rs430397 in addition to the known SNPs MDM2 rs2279744 and ALDH2 rs671.
Pubmed
22004425
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2012
Drugs