Annotation Detail

Information
Associated Genes
LAMC2
Associated Variants
APOE p.Cys130Arg (p.C130R) ( ENST00000252486.9 )
APOE p.Cys130Arg (p.C130R) ( ENST00000252486.9 )
Associated Disease
Presenile dementia
Source Database
DisGeNET
Description
When adjusted for CSF Aß42, the association of rs429358 with dementia is greatly reduced but remains significant indicating that APOE polymorphism influences disease by additional mechanisms distinct from Aß42 metabolism.
Pubmed
20847432
Original source reporting the Gene Disease association
BeFree
DisGENET score for the Gene Disease association
0.00515739556952576
Year of publication
2010
Drugs