Annotation Detail

Information
Associated Genes
PLCE1
Associated Variants
PLCE1 p.His1927Arg (p.H1927R) ( ENST00000371375.2, ENST00000371380.8, ENST00000371385.8, ENST00000675218.1, ENST00000688810.1, ENST00000692396.1 )
MUC1 p.Thr22= (p.T22=) ( ENST00000471283.5, ENST00000620103.4, ENST00000615517.4, ENST00000457295.6, ENST00000368392.7, ENST00000343256.9, ENST00000338684.9, ENST00000368389.6, ENST00000368396.8, ENST00000342482.8, ENST00000368390.7, ENST00000368393.7, ENST00000368398.7, ENST00000610359.4, ENST00000438413.5, ENST00000337604.6 )
PSCA c.-26C>T ( ENST00000301258.5, ENST00000513264.1 )
PSCA c.133+80G>A ( ENST00000301258.5, ENST00000513264.1 )
PLCE1 p.His1927Arg (p.H1927R) ( ENST00000371375.2, ENST00000371380.8, ENST00000371385.8, ENST00000675218.1, ENST00000688810.1, ENST00000692396.1 )
MUC1 p.Thr22= (p.T22=) ( ENST00000337604.6, ENST00000338684.9, ENST00000342482.8, ENST00000343256.9, ENST00000368389.6, ENST00000368390.7, ENST00000368392.7, ENST00000368393.7, ENST00000368396.8, ENST00000368398.7, ENST00000438413.5, ENST00000457295.6, ENST00000471283.5, ENST00000610359.4, ENST00000615517.4, ENST00000620103.4 )
PSCA c.-26C>T ( ENST00000301258.5, ENST00000513264.1 )
PSCA c.133+80G>A ( ENST00000301258.5, ENST00000513264.1 )
Associated Disease
gastritis
Source Database
DisGeNET
Description
Herein, we aimed to evaluate associations between PSCA (C>T, rs2294008; G>A, rs2976392), MUC1 (C>T, rs4072037) and PLCE1 (A>G, rs2274223) SNPs and GC or high-risk gastritis (HRAG).
Pubmed
25503145
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.000542883744160607
Year of publication
2015
Drugs