Annotation Detail
Information
- Associated Genes
- APOE
- Associated Variants
-
TOMM40 c.643+1393A>C
(
ENST00000252487.9,
ENST00000405636.6,
ENST00000426677.7,
ENST00000592434.5 )
APOE p.Cys130Arg (p.C130R) ( ENST00000252486.9 )
TOMM40 c.643+1393A>C ( ENST00000252487.9, ENST00000405636.6, ENST00000426677.7, ENST00000592434.5 )
APOE p.Cys130Arg (p.C130R) ( ENST00000252486.9 ) - Associated Disease
- Primary Progressive Aphasia (disorder)
- Source Database
- DisGeNET
- Description
- Inside this region of 16.3 kb, LD (r2 = 0.14) between TOMM40 (rs157590) and APOE (rs429358) was observed in PPA, but not in bvFTD and in controls.
- Pubmed
- 22710912
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00872974716828791
- Year of publication
- 2012
Drugs