Annotation Detail
Information
- Associated Genes
- APOE
- 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
- Alzheimer's disease
- Source Database
- DisGeNET
- Description
- Our findings, also supported by the β-amyloid plasma assay, confirm (1) the pathogenic role of the APP A713T mutation, (2) the specific phenotype (AD with cerebrovascular lesions) associated with this mutation, and (3) the large span of age at onset, not influenced by APOE, TOMM40, and TREM2 genes.
- Pubmed
- 25948718
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.44
- Year of publication
- 2015
Drugs