Annotation Detail
Information
- Associated Genes
- PSEN2
- Associated Variants
-
ENSG00000288674 p.Thr430Met (p.T430M), PSEN2 p.Thr430Met (p.T430M)
(
ENST00000366783.8,
ENST00000472139.2,
ENST00000679088.1,
ENST00000677599.1,
ENST00000676945.1,
ENST00000366782.6,
ENST00000626989.3,
ENST00000677414.1,
ENST00000677880.1,
ENST00000422240.6,
ENST00000678320.1 )
ENSG00000288674 p.Thr430Met (p.T430M), PSEN2 p.Thr430Met (p.T430M) ( ENST00000366782.6, ENST00000366783.8, ENST00000422240.6, ENST00000472139.2, ENST00000626989.3, ENST00000676945.1, ENST00000677414.1, ENST00000677599.1, ENST00000677880.1, ENST00000678320.1, ENST00000679088.1 ) - Associated Disease
- Alzheimer Disease, Early Onset
- Source Database
- DisGeNET
- Description
- A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease.
- Pubmed
- 12925374
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00271441872080303
- Year of publication
- 2003
Drugs