Annotation Detail

Information
Associated Genes
ERCC1
Associated Variants
POLR1G p.Pro40Ser (p.P40S) ( ENST00000309424.8, ENST00000589804.1 )
POLR1G p.Pro40Ser (p.P40S) ( ENST00000309424.8, ENST00000589804.1 )
Associated Disease
squamous cell carcinoma
Source Database
DisGeNET
Description
Subgroup analysis revealed that ERCC1 118 C/T or T/T was associated with increased survival in elderly patients (P=0.018), male (P=0.022), squamous carcinoma (P=0.003), smoker (P=0.076) and those treated with non-gemcitabine/cisplatin or carboplatin (non-GP/GC) regimen (P=0.023).
Pubmed
21676483
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00481000882732476
Year of publication
2012
Drugs