Annotation Detail

Information
Associated Genes
PIWIL1
Associated Variants
PIWIL1 c.*173C>T ( ENST00000245255.7 )
RAN c.*244A>C ( ENST00000392369.6, ENST00000541679.7, ENST00000543796.6, ENST00000541630.5 )
RAN c.*244A>G ( ENST00000541679.7, ENST00000543796.6, ENST00000541630.5, ENST00000392369.6 )
DICER1 c.*2693A>G ( ENST00000526495.6, ENST00000531162.7, ENST00000674628.2, ENST00000343455.8, ENST00000529720.2 )
PIWIL1 c.*173C>T ( ENST00000245255.7 )
RAN c.*244A>C ( ENST00000392369.6, ENST00000541630.5, ENST00000541679.7, ENST00000543796.6 )
RAN c.*244A>G ( ENST00000392369.6, ENST00000541630.5, ENST00000541679.7, ENST00000543796.6 )
DICER1 c.*2693A>G ( ENST00000343455.8, ENST00000526495.6, ENST00000529720.2, ENST00000531162.7, ENST00000674628.2 )
Associated Disease
Cancer of Head and Neck
Source Database
DisGeNET
Description
To test this hypothesis, we genotyped three SNPs at miRNA binding sites of miRNA processing genes (rs1057035 in 3'UTR of DICER, rs3803012 in 3'UTR of RAN and rs10773771 in 3'UTR of HIWI) with a case-control study including 397 HNC cases and 900 controls matched by age and sex in Chinese.
Pubmed
23071822
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000271441872080303
Year of publication
2012
Drugs