Variant | Gene | Risk Allele | Score vda | Association Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||
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T | 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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T | 0.700 | CausalMutation | CLINVAR | Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction. | 27206484 | 2016 |
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T | 0.700 | CausalMutation | CLINVAR | Dysregulation of Nutrient Sensing and CLEARance in Presenilin Deficiency. | 26923592 | 2016 |
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T | 0.700 | CausalMutation | CLINVAR | U1 small nuclear ribonucleoproteins (snRNPs) aggregate in Alzheimer's disease due to autosomal dominant genetic mutations and trisomy 21. | 24773620 | 2014 |
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T | 0.700 | CausalMutation | CLINVAR | The presenilin hypothesis of Alzheimer's disease: evidence for a loss-of-function pathogenic mechanism. | 17197420 | 2007 |
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T | 0.700 | CausalMutation | CLINVAR | Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations. | 11524469 | 2001 |
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T | 0.700 | CausalMutation | CLINVAR | A novel missense mutation (G209R) in exon 8 of the presenilin 1 gene in a Japanese family with presenile familial Alzheimer's disease. Mutation in brief no. 254. Online. | 10447269 | 1999 |
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T | 0.700 | CausalMutation | CLINVAR | The impact of different presenilin 1 andpresenilin 2 mutations on amyloid deposition, neurofibrillary changes and neuronal loss in the familial Alzheimer's disease brain: evidence for other phenotype-modifying factors. | 10468510 | 1999 |
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T | 0.700 | CausalMutation | CLINVAR | Presenilin mutations in Alzheimer's disease. | 9521418 | 1998 |