Annotation Detail
Information
- Associated Genes
- HELQ
- Associated Variants
-
HELQ p.Val306Ile (p.V306I)
(
ENST00000295488.8,
ENST00000510985.1 )
HELQ p.Val306Ile (p.V306I) ( ENST00000295488.8, ENST00000510985.1 ) - Associated Disease
- Malignant neoplasm of pharynx
- Source Database
- DisGeNET
- Description
- We showed an association between the polymerase pathway and oral cavity/pharynx cancers (P-corrected = 4.45 × 10(-) (2)), explained entirely by the association with one SNP, rs1494961 (P = 2.65 × 10(-) (4)), a missense mutation V306I in the second exon of HELQ gene.
- Pubmed
- 24658182
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2014
Drugs