Annotation Detail
Information
- Associated Genes
- ERCC1
- Associated Variants
-
NC_000016.10:g.13919809A>C
ERCC4 c.*971C>G ( ENST00000311895.8, ENST00000682617.1 )
POLR1G p.Gln506Lys (p.Q506K) ( ENST00000300853.8, ENST00000423698.6, ENST00000309424.8, ENST00000589804.1 )
ERCC1 p.Asn118= (p.N118=) ( ENST00000013807.9, ENST00000300853.8, ENST00000340192.11, ENST00000423698.6, ENST00000589165.5, ENST00000591636.5 )
ERCC1 c.-8+123G>T ( ENST00000300853.8, ENST00000340192.11, ENST00000423698.6, ENST00000589165.5 )
NC_000016.10:g.13919809A>C
ERCC4 c.*971C>G ( ENST00000311895.8, ENST00000682617.1 )
POLR1G p.Gln506Lys (p.Q506K) ( ENST00000300853.8, ENST00000423698.6, ENST00000309424.8, ENST00000589804.1 )
ERCC1 p.Asn118= (p.N118=) ( ENST00000013807.9, ENST00000300853.8, ENST00000340192.11, ENST00000423698.6, ENST00000589165.5, ENST00000591636.5 )
ERCC1 c.-8+123G>T ( ENST00000300853.8, ENST00000340192.11, ENST00000423698.6, ENST00000589165.5 ) - Associated Disease
- Xeroderma pigmentosum, group F
- Source Database
- DisGeNET
- Description
- We investigated the association between polymorphisms in excision repair cross-complementation group 1 (ERCC1) (rs3212986, rs2298881 and rs11615) and xeroderma pigmentosum-complementation group F (XPF) (rs2276466 and rs6498486) and risk of colorectal cancer.
- Pubmed
- 24861646
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00271441872080303
- Year of publication
- 2014
Drugs