Annotation Detail
Information
- Associated Genes
- APP
- Associated Variants
-
APP p.Ala713Thr (p.A713T)
(
ENST00000346798.8,
ENST00000348990.9,
ENST00000354192.7,
ENST00000357903.7,
ENST00000358918.7,
ENST00000359726.7,
ENST00000439274.6,
ENST00000440126.7 )
APP p.Ala713Thr (p.A713T) ( ENST00000346798.8, ENST00000348990.9, ENST00000354192.7, ENST00000357903.7, ENST00000358918.7, ENST00000359726.7, ENST00000439274.6, ENST00000440126.7 ) - Associated Disease
- cerebral amyloid angiopathy
- Source Database
- DisGeNET
- Description
- This indicates that the A713T mutation of the APP gene, lying at the gamma-secretase cleavage site, can be responsible for AD with symptomatic cerebral amyloid angiopathy.
- Pubmed
- 15365148
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.142870637906394
- Year of publication
- 2004
Drugs