Annotation Detail
Information
- Associated Genes
- NEIL2
- Associated Variants
-
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 )
MUTYH p.Arg271Gln (p.R271Q), ENSG00000288208 p.Arg442Gln (p.R442Q) ( ENST00000372115.7, ENST00000531105.5, ENST00000354383.10, ENST00000372098.7, ENST00000412971.6, ENST00000456914.7, ENST00000355498.6, ENST00000372110.7, ENST00000448481.5, ENST00000372104.5, ENST00000483127.2, ENST00000529892.6, ENST00000528013.6, ENST00000529984.5, ENST00000488731.6, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
MUTYH p.Val22Met (p.V22M), ENSG00000288208 p.Val190Met (p.V190M) ( ENST00000528013.6, ENST00000529984.5, ENST00000531105.5, ENST00000456914.7, ENST00000488731.6, ENST00000372115.7, ENST00000372110.7, ENST00000412971.6, ENST00000448481.5, ENST00000372098.7, ENST00000529892.6, ENST00000354383.10, ENST00000355498.6, ENST00000372104.5, ENST00000483127.2, ENST00000672314.2, ENST00000672818.3, ENST00000710952.2, ENST00000713750.1, ENST00000713751.1 )
NEIL2 p.Arg257Gln (p.R257Q) ( ENST00000284503.7, ENST00000403422.7, ENST00000436750.7, ENST00000455213.6, ENST00000528323.5 )
NEIL2 p.Arg257Leu (p.R257L) ( ENST00000284503.7, ENST00000403422.7, ENST00000436750.7, ENST00000455213.6, ENST00000528323.5 )
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 )
MUTYH p.Arg271Gln (p.R271Q), ENSG00000288208 p.Arg442Gln (p.R442Q) ( 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 )
MUTYH p.Val22Met (p.V22M), ENSG00000288208 p.Val190Met (p.V190M) ( 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 )
NEIL2 p.Arg257Gln (p.R257Q) ( ENST00000284503.7, ENST00000403422.7, ENST00000436750.7, ENST00000455213.6, ENST00000528323.5 )
NEIL2 p.Arg257Leu (p.R257L) ( ENST00000284503.7, ENST00000403422.7, ENST00000436750.7, ENST00000455213.6, ENST00000528323.5 ) - Associated Disease
- Impaired cognition
- Source Database
- DisGeNET
- Description
- Dispersed association effects involving MutYH(His324Gln), MutYH(Met22Val), PolB(Pro242Arg) and NEIL2(Arg257Leu) were also detected when APOE or CHRNA4, were included in the statistical model, a result consistent with proposed involvement of the latter markers in human cognitive decline and/or function.
- Pubmed
- 21884718
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 2011
Drugs