Annotation Detail
Information
- Associated Genes
- MUTYH
- Associated Variants
-
APEX1 p.Asp148Glu (p.D148E)
(
ENST00000557054.1,
ENST00000398030.8,
ENST00000216714.8,
ENST00000555414.5 )
APEX1 p.Asp148Glu (p.D148E) ( ENST00000555414.5, ENST00000216714.8, ENST00000557054.1, ENST00000398030.8 )
MUTYH p.Gln335His (p.Q335H), ENSG00000288208 p.Gln506His (p.Q506H) ( ENST00000456914.7, ENST00000529984.5, ENST00000528013.6, ENST00000372115.7, ENST00000488731.6, ENST00000529892.6, ENST00000372104.5, ENST00000354383.10, ENST00000448481.5, ENST00000483127.2, ENST00000355498.6, ENST00000372098.7, ENST00000372110.7, ENST00000412971.6, ENST00000531105.5, ENST00000713751.1, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1 )
APEX1 p.Asp148Glu (p.D148E) ( ENST00000216714.8, ENST00000398030.8, ENST00000555414.5, ENST00000557054.1 )
APEX1 p.Asp148Glu (p.D148E) ( ENST00000216714.8, ENST00000398030.8, ENST00000555414.5, ENST00000557054.1 )
MUTYH p.Gln335His (p.Q335H), ENSG00000288208 p.Gln506His (p.Q506H) ( ENST00000354383.10, ENST00000355498.6, ENST00000372098.7, ENST00000372104.5, ENST00000372110.7, ENST00000372115.7, ENST00000412971.6, ENST00000448481.5, ENST00000456914.7, ENST00000483127.2, ENST00000488731.6, ENST00000528013.6, ENST00000529892.6, ENST00000529984.5, ENST00000531105.5, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 ) - Associated Disease
- Malignant tumor of colon
- Source Database
- DisGeNET
- Description
- The ORs for the MUTYH Gln324His and the APEX1 Asp148Glu were statistically significant for colon cancer (adjusted OR 3.95, 95%CI 1.28-12.20, p = 0.017 for MUTYH Gln324His ; adjusted OR 3.04, 95%CI 1.38-6.71, p = 0.006 for APEX1 Asp148Glu).
- Pubmed
- 18823566
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00271441872080303
- Year of publication
- 2008
Drugs