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 )
PLCE1 p.His1927Arg (p.H1927R) ( ENST00000371375.2, ENST00000371380.8, ENST00000371385.8, ENST00000675218.1, ENST00000688810.1, ENST00000692396.1 ) - Associated Disease
- Giant Cell Arteritis
- Source Database
- DisGeNET
- Description
- A single nucleotide polymorphism (SNP, rs2274223) in PLCE1 has been identified as a novel susceptibility locus in genome-wide association studies (GWAS) of esophageal squamous cell carcinoma (ESCC) and gastric cardia adenocarcinoma (GCA) that share similar risk factors with SCCHN.
- Pubmed
- 21689432
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
- Year of publication
- 2011
Drugs