Annotation Detail
Information
- Associated Genes
- ERCC1
- Associated Variants
-
ERCC1 MUTATION
ERCC1 MUTATION
MGMT p.Leu84Phe (p.L84F) ( ENST00000306010.8, ENST00000651593.1 )
MGMT p.Leu84Phe (p.L84F) ( ENST00000306010.8, ENST00000651593.1 ) - Associated Disease
- Glioma
- Source Database
- DisGeNET
- Description
- In the single-locus analysis, six single-nucleotide polymorphisms [ERCC1 3' untranslated region (UTR), XRCC1 R399Q, APEX1 E148D, PARP1 A762V, MGMT F84L, and LIG1 5'UTR] showed a significant association with glioma risk.
- Pubmed
- 19124499
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.0120729260250364
- Year of publication
- 2009
Drugs