Annotation Detail
Information
- Associated Genes
- PSEN2
- Associated Variants
-
ENSG00000288674 p.Ala85Val (p.A85V), PSEN2 p.Ala85Val (p.A85V)
(
ENST00000422240.6,
ENST00000678320.1,
ENST00000626989.3,
ENST00000366782.6,
ENST00000677414.1,
ENST00000677880.1,
ENST00000676945.1,
ENST00000677599.1,
ENST00000366783.8,
ENST00000679088.1 )
ENSG00000288674 p.Ala85Val (p.A85V), PSEN2 p.Ala85Val (p.A85V) ( ENST00000366782.6, ENST00000366783.8, ENST00000422240.6, ENST00000626989.3, ENST00000676945.1, ENST00000677414.1, ENST00000677599.1, ENST00000677880.1, ENST00000678320.1, ENST00000679088.1 ) - Associated Disease
- Mild cognitive disorder
- Source Database
- DisGeNET
- Description
- Genetic analysis showed a novel PSEN2 A85V mutation present in the proband and in all analyzed affected members, in a subject presenting with an amnesic mild cognitive impairment, and in a young, still asymptomatic subject.
- Pubmed
- 18427071
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000542883744160607
- Year of publication
- 2008
Drugs