Annotation Detail

Information
Associated Genes
PLCE1
Associated Variants
PLCE1 p.Thr1777Ile (p.T1777I) ( ENST00000688810.1, ENST00000692396.1, ENST00000675218.1, ENST00000371380.8, ENST00000371385.8, ENST00000371375.2 )
PLCE1 p.His1927Arg (p.H1927R) ( ENST00000371375.2, ENST00000371380.8, ENST00000371385.8, ENST00000675218.1, ENST00000688810.1, ENST00000692396.1 )
PLCE1 c.6003+1919A>G ( ENST00000688810.1, ENST00000692396.1, ENST00000675218.1, ENST00000371380.8, ENST00000371385.8, ENST00000371375.2 )
PLCE1 p.Thr1777Ile (p.T1777I) ( 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 )
PLCE1 c.6003+1919A>G ( ENST00000371375.2, ENST00000371380.8, ENST00000371385.8, ENST00000675218.1, ENST00000688810.1, ENST00000692396.1 )
Associated Disease
Malignant neoplasm of stomach
Source Database
DisGeNET
Description
A notable signal was rs2274223, a nonsynonymous SNP located in PLCE1, for gastric cancer (P = 8.40 x 10(-9); per-allele odds ratio (OR) = 1.31) and ESCC (P = 3.85 x 10(-9); OR = 1.34).
Pubmed
20729852
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.124071628081205
Year of publication
2010
Drugs