Annotation Detail
Information
- Associated Genes
- PLCE1
- Associated Variants
-
PLCE1 c.1206+19430C>T
(
ENST00000371380.8,
ENST00000692396.1 )
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.1206+19430C>T ( ENST00000371380.8, ENST00000692396.1 )
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 ) - Associated Disease
- Malignant neoplasm of esophagus
- Source Database
- DisGeNET
- Description
- Phospholipase C epsilon 1 (PLCE1 rs2274223A>G, rs3765524C>T and rs7922612C>T) polymorphisms and esophageal cancer risk in the Kashmir Valley.
- Pubmed
- 24935391
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.127719924550087
- Year of publication
- 2015
Drugs