Annotation Detail
Information
- Associated Genes
- APOE
- Associated Variants
-
APOE p.Cys130Arg (p.C130R)
(
ENST00000252486.9 )
NC_000019.10:g.44911194T>C
APOE p.Cys130Arg (p.C130R) ( ENST00000252486.9 )
NC_000019.10:g.44911194T>C - Associated Disease
- Alzheimer's disease
- Source Database
- DisGeNET
- Description
- [In addition to known candidate genes, APOE, TOMM40, and one hypothetical gene LOC100129500 partially overlapping APOE; one novel gene, EPC2, and several other interesting genes were associated with CSF biomarkers that are related to AD.]
- Pubmed
- 21123754
- Original source reporting the Gene Disease association
- GAD
- DisGENET score for the Gene Disease association
- 0.44
- Year of publication
- 2011
Drugs