Annotation Detail
Information
- Associated Genes
- XRCC5
- Associated Variants
-
LIG4 p.Thr9Ile (p.T9I)
(
ENST00000687164.1,
ENST00000688595.1,
ENST00000686204.1,
ENST00000688396.1,
ENST00000686095.1,
ENST00000685338.1,
ENST00000686913.1,
ENST00000689762.1,
ENST00000614526.2,
ENST00000611712.4,
ENST00000687822.1,
ENST00000405925.2,
ENST00000693040.1,
ENST00000686926.1,
ENST00000692222.1,
ENST00000688529.1,
ENST00000442234.6,
ENST00000690127.1,
ENST00000688455.1 )
XRCC5 c.2110-2408G>A ( ENST00000392132.7, ENST00000392133.7 )
XRCC4 c.894-1G>A ( ENST00000282268.7, ENST00000338635.10, ENST00000396027.9, ENST00000511817.1 )
LIG4 p.Thr9Ile (p.T9I) ( ENST00000405925.2, ENST00000442234.6, ENST00000611712.4, ENST00000614526.2, ENST00000685338.1, ENST00000686095.1, ENST00000686204.1, ENST00000686913.1, ENST00000686926.1, ENST00000687164.1, ENST00000687822.1, ENST00000688396.1, ENST00000688455.1, ENST00000688529.1, ENST00000688595.1, ENST00000689762.1, ENST00000690127.1, ENST00000692222.1, ENST00000693040.1 )
XRCC5 c.2110-2408G>A ( ENST00000392132.7, ENST00000392133.7 )
XRCC4 c.894-1G>A ( ENST00000282268.7, ENST00000338635.10, ENST00000396027.9, ENST00000511817.1 ) - Associated Disease
- Non-small cell lung carcinoma
- Source Database
- DisGeNET
- Description
- Patients with NSCLC (n = 152) and a group of appropriate age-matched and sex-matched controls (n = 162) were subjected to genotype analysis of the NHEJ pathway genes x-ray repair complementing defective repair in Chinese hamster cells 6 (Ku70) (reference single nucleotide polymorphism number [rs] 2267437), x-ray repair complementing defective repair in Chinese hamster cells 5 (Ku80) (rs3835), x-ray repair complementing defective repair in Chinese hamster cells 4 (XRCC4) (rs1805377), and DNA ligase IV (LIG4) (rs1805388).
- Pubmed
- 19408343
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00135720936040152
- Year of publication
- 2009
Drugs