Annotation Detail
Information
- Associated Genes
- PSEN2
- Associated Variants
-
ENSG00000288674 p.Met239Ile (p.M239I), PSEN2 p.Met239Ile (p.M239I)
(
ENST00000677599.1,
ENST00000676945.1,
ENST00000472139.2,
ENST00000679088.1,
ENST00000366783.8,
ENST00000678320.1,
ENST00000422240.6,
ENST00000677880.1,
ENST00000677414.1,
ENST00000366782.6,
ENST00000626989.3 )
ENSG00000288674 p.Met239Ile (p.M239I), PSEN2 p.Met239Ile (p.M239I) ( ENST00000366782.6, ENST00000366783.8, ENST00000422240.6, ENST00000472139.2, ENST00000626989.3, ENST00000676945.1, ENST00000677414.1, ENST00000677599.1, ENST00000677880.1, ENST00000678320.1, ENST00000679088.1 ) - Associated Disease
- Amnesia
- Source Database
- DisGeNET
- Description
- We reported a patient with early-onset FAD and the PSEN2 p.Met239Ile mutation, presenting with severe executive dysfunction and myoclonic tremor, associated with memory loss.
- Pubmed
- 22531416
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00290991572276264
- Year of publication
- 2012
Drugs