Annotation Detail

Information
Associated Genes
SLC52A3
Associated Variants
PLCE1 p.His1927Arg (p.H1927R) ( ENST00000371375.2, ENST00000371380.8, ENST00000371385.8, ENST00000675218.1, ENST00000688810.1, ENST00000692396.1 )
PLCE1 p.His1927Arg (p.H1927R) ( ENST00000371375.2, ENST00000371380.8, ENST00000371385.8, ENST00000675218.1, ENST00000688810.1, ENST00000692396.1 )
Associated Disease
Squamous cell carcinoma of esophagus
Source Database
DisGeNET
Description
In contrast to the modulation of the risk of ESCC in Asians, it is unlikely that the PLCE1 rs2274223 and RFT2 13042395 SNPs play a role in EAC or ESCC susceptibility in Dutch Caucasians.
Pubmed
23222411
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.122171534976642
Year of publication
2014
Drugs