Annotation Detail

Information
Associated Genes
TOMM40
Associated Variants
TOMM40 c.274+320G>A ( ENST00000592434.5, ENST00000426677.7, ENST00000405636.6, ENST00000252487.9 )
TOMM40 c.275-31A>G ( ENST00000592434.5, ENST00000426677.7, ENST00000252487.9, ENST00000405636.6 )
TOMM40 c.274+320G>A ( ENST00000252487.9, ENST00000405636.6, ENST00000426677.7, ENST00000592434.5 )
TOMM40 c.275-31A>G ( ENST00000252487.9, ENST00000405636.6, ENST00000426677.7, ENST00000592434.5 )
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
0.158762782143994
Year of publication
2011
Drugs