Annotation Detail

Information
Associated Genes
ERBB4
Associated Variants
rs11614913
GEMIN4 p.Arg1033Cys (p.R1033C) ( ENST00000576778.1, ENST00000319004.6 )
ERBB4 c.*6615G>A ( ENST00000342788.9, ENST00000436443.5 )
ERBB4 c.*5329A>G ( ENST00000342788.9, ENST00000436443.5 )
rs2910164
rs11614913
GEMIN4 p.Arg1033Cys (p.R1033C) ( ENST00000319004.6, ENST00000576778.1 )
ERBB4 c.*6615G>A ( ENST00000342788.9, ENST00000436443.5 )
ERBB4 c.*5329A>G ( ENST00000342788.9, ENST00000436443.5 )
rs2910164
Associated Disease
Esophageal Neoplasms
Source Database
DisGeNET
Description
To evaluate the association between microRNA-related SNPs and EC, a case-control study including 381 patients with esophageal squamous cell carcinoma (ESCC) and 426 gender, age-matched controls was carried out to investigate the genetic susceptibility of five microRNA-related SNPs (rs2910164 in microRNA-146a, rs11614913 in microRNA-196a-2, rs7813 in GEMIN4, rs1595066 and rs16845990 in ErbB4) as well as the interactions of gene-gene and gene-environment in the development of ESCC.
Pubmed
24916311
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2014
Drugs