Annotation Detail
Information
- Associated Genes
- PSEN1
- Associated Variants
-
PSEN1 p.Ala246Glu (p.A246E)
(
ENST00000700313.1,
ENST00000557293.6,
ENST00000700323.1,
ENST00000700320.1,
ENST00000700265.1,
ENST00000700378.1,
ENST00000394164.5,
ENST00000700271.1,
ENST00000700389.1,
ENST00000700307.1,
ENST00000700469.1,
ENST00000700322.1,
ENST00000324501.10,
ENST00000700317.1,
ENST00000700273.1,
ENST00000700321.1,
ENST00000700375.1,
ENST00000556951.6,
ENST00000553599.6,
ENST00000700312.1,
ENST00000700267.1,
ENST00000700269.1,
ENST00000357710.8,
ENST00000700324.1,
ENST00000557511.5,
ENST00000700468.1,
ENST00000700268.1,
ENST00000700437.1,
ENST00000554131.6,
ENST00000700306.1 )
PSEN1 p.Ala246Glu (p.A246E) ( ENST00000324501.10, ENST00000357710.8, ENST00000394164.5, ENST00000553599.6, ENST00000554131.6, ENST00000556951.6, ENST00000557293.6, ENST00000557511.5, ENST00000700265.1, ENST00000700267.1, ENST00000700268.1, ENST00000700269.1, ENST00000700271.1, ENST00000700273.1, ENST00000700306.1, ENST00000700307.1, ENST00000700312.1, ENST00000700313.1, ENST00000700317.1, ENST00000700320.1, ENST00000700321.1, ENST00000700322.1, ENST00000700323.1, ENST00000700324.1, ENST00000700375.1, ENST00000700378.1, ENST00000700389.1, ENST00000700437.1, ENST00000700468.1, ENST00000700469.1 ) - Associated Disease
- amyloidosis
- Source Database
- DisGeNET
- Description
- This strain, which over-expresses both the 695 amino acid isoform of human amyloid precursor protein (APP) with K670N and M671L mutations and presenilin 1 with the A246E mutation, has accelerated amyloidosis and plaque formation.
- Pubmed
- 20630068
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.121085767488321
- Year of publication
- 2010
Drugs