Annotation Detail
Information
- Associated Genes
- PIK3CA
- Associated Variants
-
PIK3CA c.-77+8483C>T
(
ENST00000263967.4,
ENST00000643187.1 )
PIK3CA c.-76-23509A>G ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA c.-76-18864C>A ( ENST00000263967.4, ENST00000643187.1 )
EGFR p.Arg521Lys (p.R521K) ( ENST00000342916.7, ENST00000344576.7, ENST00000275493.7, ENST00000455089.5, ENST00000450046.2 )
EGFR p.Arg521Thr (p.R521T) ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Arg521Met (p.R521M) ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000450046.2, ENST00000455089.5 )
PIK3CA c.-77+8483C>T ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA c.-76-23509A>G ( ENST00000263967.4, ENST00000643187.1 )
PIK3CA c.-76-18864C>A ( ENST00000263967.4, ENST00000643187.1 )
EGFR p.Arg521Lys (p.R521K) ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Arg521Thr (p.R521T) ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000450046.2, ENST00000455089.5 )
EGFR p.Arg521Met (p.R521M) ( ENST00000275493.7, ENST00000342916.7, ENST00000344576.7, ENST00000450046.2, ENST00000455089.5 ) - Associated Disease
- Squamous cell carcinoma of esophagus
- Source Database
- DisGeNET
- Description
- EGFR:rs2227983 and 3 SNPs of PIK3CA also showed borderline significant correlation with OS of advanced ESCC patients (P = 0.058 for rs2227983; P = 0.069, 0.091 and 0.067 for rs6443624, rs7651265 and rs7621329 of PIK3CA respectively).
- Pubmed
- 24945674
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00380018620912425
- Year of publication
- 2014
Drugs