Annotation Detail
Information
- Associated Genes
- ERCC4
- Associated Variants
-
ERCC4 p.Arg415Gln (p.R415Q)
(
ENST00000311895.8,
ENST00000682617.1 )
MUTYH c.-127C>T, TOE1 c.52+77G>A, ENSG00000288208 c.541-5870C>T ( ENST00000372090.6, ENST00000372110.7, ENST00000710952.2, ENST00000529892.6, ENST00000372098.7, ENST00000672818.3, ENST00000372115.7, ENST00000529984.5 )
MUTYH c.-127C>A, TOE1 c.52+77G>T, ENSG00000288208 c.541-5870C>A ( ENST00000710952.2, ENST00000372110.7, ENST00000372090.6, ENST00000672818.3, ENST00000372098.7, ENST00000529892.6, ENST00000529984.5, ENST00000372115.7 )
PCNA c.222-124C>T ( ENST00000379143.10, ENST00000379160.3 )
ERCC4 p.Arg415Gln (p.R415Q) ( ENST00000311895.8, ENST00000682617.1 )
MUTYH c.-127C>T, TOE1 c.52+77G>A, ENSG00000288208 c.541-5870C>T ( ENST00000372098.7, ENST00000372110.7, ENST00000372115.7, ENST00000529892.6, ENST00000529984.5, ENST00000672818.3, ENST00000710952.2, ENST00000372090.6 )
MUTYH c.-127C>A, TOE1 c.52+77G>T, ENSG00000288208 c.541-5870C>A ( ENST00000372098.7, ENST00000372110.7, ENST00000372115.7, ENST00000529892.6, ENST00000529984.5, ENST00000672818.3, ENST00000710952.2, ENST00000372090.6 )
PCNA c.222-124C>T ( ENST00000379143.10, ENST00000379160.3 ) - Associated Disease
- Meningioma, benign, no ICD-O subtype
- Source Database
- DisGeNET
- Description
- Significantly increased meningioma risk was also observed for the minor allele variants of ERCC4 rs1800067 (P(trend) .01); MUTYH rs3219466 (P(trend) .02), and PCNA rs25406 (P(trend) .03).
- Pubmed
- 20150366
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2010
Drugs