Annotation Detail
Information
- Associated Genes
- POLR1G
- Associated Variants
-
PPP1R13L c.1816-1435A>G
(
ENST00000360957.10,
ENST00000418234.6 )
CD3EAP SNV ( ENST00000309424.8 )
ERCC1 p.Asn118= (p.N118=) ( ENST00000013807.9, ENST00000300853.8, ENST00000340192.11, ENST00000423698.6, ENST00000589165.5, ENST00000591636.5 )
PPP1R13L c.1816-1435A>G ( ENST00000360957.10, ENST00000418234.6 )
CD3EAP SNV ( ENST00000309424.8 )
ERCC1 p.Asn118= (p.N118=) ( ENST00000013807.9, ENST00000300853.8, ENST00000340192.11, ENST00000423698.6, ENST00000589165.5, ENST00000591636.5 ) - Associated Disease
- Carcinoma of lung
- Source Database
- DisGeNET
- Description
- A specific diplotype defined by PPP1R13L rs1970764, CD3EAP rs967591 and ERCC1 rs11615 and lung cancer risk in a Chinese population.
- Pubmed
- 22335888
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00162865123248182
- Year of publication
- 2012
Drugs