| Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
|---|---|---|---|---|---|---|---|---|---|---|
|
A | 0.700 | CausalMutation | CLINVAR | Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase. | 27930341 | 2017 |
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|
A | 0.700 | CausalMutation | CLINVAR | Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain. | 27100200 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | Familial Alzheimer's Disease Mutations in Presenilin Generate Amyloidogenic Aβ Peptide Seeds. | 27100199 | 2016 |
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|
A | 0.700 | CausalMutation | CLINVAR | Presenilin-1 knockin mice reveal loss-of-function mechanism for familial Alzheimer's disease. | 25741723 | 2015 |
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|
A | 0.700 | CausalMutation | CLINVAR | Familial Alzheimer's disease coding mutations reduce Presenilin-1 expression in a novel genomic locus reporter model. | 24011544 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease. | 24880964 | 2014 |
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|
A | 0.700 | CausalMutation | CLINVAR | Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production. | 23843529 | 2013 |
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|
A | 0.700 | CausalMutation | CLINVAR | MOCA is an integrator of the neuronal death signals that are activated by familial Alzheimer's disease-related mutants of amyloid β precursor protein and presenilins. | 22115042 | 2012 |
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|
A | 0.700 | CausalMutation | CLINVAR | Presenilin/γ-secretase regulates neurexin processing at synapses. | 21559374 | 2011 |
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|
A | 0.700 | CausalMutation | CLINVAR | Presenilin 1 mutants impair the self-renewal and differentiation of adult murine subventricular zone-neuronal progenitors via cell-autonomous mechanisms involving notch signaling. | 20484632 | 2010 |
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|
A | 0.700 | CausalMutation | CLINVAR | Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees. | 17553989 | 2007 |
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|
A | 0.700 | CausalMutation | CLINVAR | Dual roles of the transmembrane protein p23/TMP21 in the modulation of amyloid precursor protein metabolism. | 17288597 | 2007 |
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|
A | 0.700 | CausalMutation | CLINVAR | Presenilin-1 C410Y Alzheimer disease plaques contain synaptic proteins. | 17545141 | 2007 |
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|
A | 0.700 | CausalMutation | CLINVAR | Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing. | 9680315 | 1997 |
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|
A | 0.700 | CausalMutation | CLINVAR | Alzheimer's disease-associated presenilins 1 and 2: accelerated amyloid fibril formation of mutant 410 Cys-->Tyr and 141 Asn-->Ile peptides. | 9196071 | 1997 |
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|
A | 0.700 | CausalMutation | CLINVAR | Mutations of the presenilin I gene in families with early-onset Alzheimer's disease. | 8634712 | 1995 |
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|
A | 0.700 | CausalMutation | CLINVAR | Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. | 7596406 | 1995 |