Annotation Detail
Information
- Associated Genes
- PSEN2
- Associated Variants
-
ENSG00000288674 p.Asn141Ile (p.N141I), PSEN2 p.Asn141Ile (p.N141I)
(
ENST00000677414.1,
ENST00000677880.1,
ENST00000366782.6,
ENST00000626989.3,
ENST00000678320.1,
ENST00000422240.6,
ENST00000472139.2,
ENST00000679088.1,
ENST00000366783.8,
ENST00000677599.1,
ENST00000676945.1 )
ENSG00000288674 p.Asn141Ile (p.N141I), PSEN2 p.Asn141Ile (p.N141I) ( ENST00000366782.6, ENST00000366783.8, ENST00000422240.6, ENST00000472139.2, ENST00000626989.3, ENST00000676945.1, ENST00000677414.1, ENST00000677599.1, ENST00000677880.1, ENST00000678320.1, ENST00000679088.1 ) - Associated Disease
- Amyloid angiopathy
- Source Database
- DisGeNET
- Description
- Amyloid angiopathy in a Volga German family with Alzheimer's disease and a presenilin-2 mutation (N141I).
- Pubmed
- 9450781
- Original source reporting the Gene Disease association
- BeFree
- DisGENET score for the Gene Disease association
- 0.000271441872080303
- Year of publication
- 1998
Drugs