Annotation Detail
Information
- Associated Genes
- ERCC5
- Associated Variants
-
BIVM-ERCC5 p.Asp1558His (p.D1558H), ERCC5 p.Asp1104His (p.D1104H)
(
ENST00000652613.1,
ENST00000652225.2,
ENST00000639435.1,
ENST00000639132.1 )
BIVM-ERCC5 p.Asp1558His (p.D1558H), ERCC5 p.Asp1104His (p.D1104H) ( ENST00000652225.2, ENST00000652613.1, ENST00000639132.1, ENST00000639435.1 ) - Associated Disease
- sarcoma
- Source Database
- DisGeNET
- Description
- Our results raise the potential implication of the XPG Asp1104His polymorphism in the occurrence of chromosomal translocations associated with specific subtypes of sarcomas.
- Pubmed
- 16646069
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00563426596522981
- Year of publication
- 2006
Drugs