rs63750301, PSEN1

N. diseases: 6
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
0.700 GeneticVariation UNIPROT Genetic screening in two Iranian families with early-onset Alzheimer's disease identified a novel PSEN1 mutation. 29175279 2018
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
0.700 GeneticVariation UNIPROT Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase. 27930341 2017
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
0.700 GeneticVariation UNIPROT An atomic structure of human γ-secretase. 26280335 2015
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
0.700 GeneticVariation UNIPROT Novel presenilin 1 mutation (p.I83T) in Tunisian family with early-onset Alzheimer's disease. 26145164 2015
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
0.700 GeneticVariation UNIPROT G206D Mutation of Presenilin-1 Reduces Pen2 Interaction, Increases Aβ42/Aβ40 Ratio and Elevates ER Ca(2+) Accumulation. 25394380 2015
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
0.700 GeneticVariation UNIPROT A novel p.Leu(381)Phe mutation in presenilin 1 is associated with very early onset and unusually fast progressing dementia as well as lysosomal inclusions typically seen in Kufs disease. 24121961 2014
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
0.700 GeneticVariation UNIPROT A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease. 24582897 2014
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
0.700 GeneticVariation UNIPROT Alzheimer's disease-linked mutations in presenilin-1 result in a drastic loss of activity in purified γ-secretase complexes. 22529981 2012
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
0.700 GeneticVariation UNIPROT A novel PSEN1 gene mutation (L235R) associated with familial early-onset Alzheimer's disease. 21501661 2011
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
0.700 GeneticVariation UNIPROT Presenilin1 G217R mutation linked to Alzheimer disease with cotton wool plaques. 19667325 2009
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
0.700 GeneticVariation UNIPROT C-terminal PAL motif of presenilin and presenilin homologues required for normal active site conformation. 16305624 2006
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
0.700 GeneticVariation UNIPROT A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis. 15364419 2004
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
0.700 GeneticVariation UNIPROT Presenilin-1 mutation (E280G), spastic paraparesis, and cranial MRI white-matter abnormalities. 12370477 2002
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
0.700 GeneticVariation UNIPROT A novel mutation (V89L) in the presenilin 1 gene in a family with early onset Alzheimer's disease and marked behavioural disturbances. 11796781 2002
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
0.700 GeneticVariation UNIPROT Very early onset Alzheimer's disease with spastic paraparesis associated with a novel presenilin 1 mutation (Phe237Ile). 11561050 2001
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
0.700 GeneticVariation UNIPROT A novel Leu171Pro mutation in presenilin-1 gene in a Mexican family with early onset Alzheimer disease. 9833068 1998
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
0.700 GeneticVariation UNIPROT Missense mutation in exon 11 (Codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification. Mutations in brief no. 141. Online. besancon@rockefeller1.univ.lyon1.fr. 10200054 1998
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
0.700 GeneticVariation UNIPROT De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group. 9719376 1998
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
0.700 GeneticVariation UNIPROT The E280A presenilin 1 Alzheimer mutation produces increased A beta 42 deposition and severe cerebellar pathology. 8837617 1996
Alzheimer disease, familial, type 3
CUI: C1843013
Disease: Alzheimer disease, familial, type 3
0.700 GeneticVariation UNIPROT Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. 7651536 1995
Dementia
CUI: C0497327
Disease: Dementia
0.700 GeneticVariation CLINVAR
Mental deterioration
CUI: C0234985
Disease: Mental deterioration
0.700 GeneticVariation CLINVAR
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.040 GeneticVariation BEFREE Using a newly developed ELISA for Aβ modified at glutamate 3 with a pyroglutamate (pE3Aβ), brain pE3Aβ was characterized in human AD in an AD mouse model harboring double knock-in amyloid precursor protein (APP)-KM670/671NL and presenilin 1 (PS1)-P264L (APP/PS1-dKI) mutations, and in a second mouse model with transgenic overexpression of human APP695 with APP-KM670/671NL (Tg2576). 24158021 2014
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.040 GeneticVariation BEFREE This study is one of few reports of AD siblings possessing the same mutation but exhibiting different clinical phenotypes in a Japanese family possessing a P264L mutation in the PSEN1 gene. 22572737 2012
Alzheimer's Disease
CUI: C0002395
Disease: Alzheimer's Disease
0.040 GeneticVariation BEFREE To investigate the consequences of genetic mutation of AD on oxidative damages and production of MnSOD during neuronal development, we used primary neurons from new born wild-type (WT/WT) and amyloid precursor protein (APP) (NLh/NLh) and presenilin 1 (PS1) (P264L) knock-in mice (APP/PS1) which incorporated humanized mutations in the genome. 18353561 2008