Annotation Detail
Information
- Associated Genes
- PSEN2
- Associated Variants
-
ENSG00000288674 p.Thr122Arg (p.T122R), PSEN2 p.Thr122Arg (p.T122R)
(
ENST00000676945.1,
ENST00000677599.1,
ENST00000366783.8,
ENST00000679088.1,
ENST00000472139.2,
ENST00000422240.6,
ENST00000678320.1,
ENST00000626989.3,
ENST00000366782.6,
ENST00000677880.1,
ENST00000677414.1 )
ENSG00000288674 p.Thr122Met (p.T122M), PSEN2 p.Thr122Met (p.T122M) ( ENST00000679088.1, ENST00000472139.2, ENST00000366783.8, ENST00000676945.1, ENST00000677599.1, ENST00000677880.1, ENST00000677414.1, ENST00000626989.3, ENST00000366782.6, ENST00000678320.1, ENST00000422240.6 )
ENSG00000288674 p.Thr122Arg (p.T122R), PSEN2 p.Thr122Arg (p.T122R) ( ENST00000677414.1, ENST00000677599.1, ENST00000677880.1, ENST00000678320.1, ENST00000679088.1, ENST00000366782.6, ENST00000366783.8, ENST00000422240.6, ENST00000472139.2, ENST00000626989.3, ENST00000676945.1 )
ENSG00000288674 p.Thr122Met (p.T122M), PSEN2 p.Thr122Met (p.T122M) ( ENST00000366782.6, ENST00000366783.8, ENST00000422240.6, ENST00000472139.2, ENST00000626989.3, ENST00000676945.1, ENST00000677414.1, ENST00000677599.1, ENST00000677880.1, ENST00000678320.1, ENST00000679088.1 ) - Associated Disease
- Presenile dementia
- Source Database
- DisGeNET
- Description
- Reduction of Ca2+ stores and capacitative Ca2+ entry is associated with the familial Alzheimer's disease presenilin-2 T122R mutation and anticipates the onset of dementia.
- Pubmed
- 15755689
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.00352874433704394
- Year of publication
- 2005
Drugs