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PSEN1 and Alzheimer disease are reported together in 8 articles.
Gene
PSEN1
- HGNC
- HGNC:9508
8articles
8mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Alzheimer disease
455articles
455mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
8 records shown · first 60CRISPR-Cas9 and next-generation gene editing strategies for therapeutic intervention of neurodegenerative pathways in Alzheimer's disease: a state-of-the-art review.
PMID 41931258 | DOI 10.1007/s13760-026-03033-9 · Acta neurologica Belgica · 2026 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PSEN1 | “We discuss targeting of critical genes such as APOE4, APP, PSEN1, PSEN2, and MAPT, which play central roles in amyloid processing, tau pathology, lipid metabolism, and neuroinflammatory cascades, and evaluate strategies for allele-specific correction, gene silencing, and transcriptional regulation using CRISPR interference/activation and epigenome editing tools.” | 0.98 | hgnc_dict_v1 |
| phenotype | Alzheimer disease | “CRISPR-Cas9 and next-generation gene editing strategies for therapeutic intervention of neurodegenerative pathways in Alzheimer's disease: a state-of-the-art review.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | APP | “We discuss targeting of critical genes such as APOE4, APP, PSEN1, PSEN2, and MAPT, which play central roles in amyloid processing, tau pathology, lipid metabolism, and neuroinflammatory cascades, and evaluate strategies for allele-specific correction, gene silencing, and transcriptional regulation using CRISPR interference/activation and epigenome editing tools.” | 0.98 | hgnc_dict_v1 |
| gene | PSEN2 | “We discuss targeting of critical genes such as APOE4, APP, PSEN1, PSEN2, and MAPT, which play central roles in amyloid processing, tau pathology, lipid metabolism, and neuroinflammatory cascades, and evaluate strategies for allele-specific correction, gene silencing, and transcriptional regulation using CRISPR interference/activation and epigenome editing tools.” | 0.98 | hgnc_dict_v1 |
predALZ: An Ensemble Learning Framework for Identifying Genetic Biomarkers in Familial Alzheimer's Disease.
PMID 42163597 | DOI 10.2174/0113894501408301251214192633 · Current drug targets · 2026 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PSEN1 | “Mutations in genes like APP, PSEN1, and PSEN2 serve as crucial biomarkers, indicating a heightened risk of developing AD.” | 0.98 | hgnc_dict_v1 |
| phenotype | Alzheimer disease | “predALZ: An Ensemble Learning Framework for Identifying Genetic Biomarkers in Familial Alzheimer's Disease.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | APP | “Mutations in genes like APP, PSEN1, and PSEN2 serve as crucial biomarkers, indicating a heightened risk of developing AD.” | 0.98 | hgnc_dict_v1 |
| gene | PSEN2 | “Mutations in genes like APP, PSEN1, and PSEN2 serve as crucial biomarkers, indicating a heightened risk of developing AD.” | 0.98 | hgnc_dict_v1 |
Network pharmacology and molecular dynamic simulation integrated strategy for the screening of active components and mechanisms of phytochemicals from Datura innoxia on Alzheimer and cognitive decline.
PMID 38287491 | DOI 10.1080/07391102.2024.2308756 · Journal of biomolecular structure & dynamics · 2025 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PSEN1 | “Based on the STRING and Cytoscape network-analysis platforms, the top ten anti-AD core targets include APP, CASP3, IL6, BACE1, IL1B, ACE, PSEN1, GAPDH, GSK3B and ACHE.” | 0.98 | hgnc_dict_v1 |
| phenotype | Alzheimer disease | “Alzheimer's disease (AD) ranks as the most prevalent neurodegenerative disorder with dementia and it accounts for more than 70% of all cases.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | CASP3 | “Based on the STRING and Cytoscape network-analysis platforms, the top ten anti-AD core targets include APP, CASP3, IL6, BACE1, IL1B, ACE, PSEN1, GAPDH, GSK3B and ACHE.” | 0.98 | hgnc_dict_v1 |
| gene | BACE1 | “Based on the STRING and Cytoscape network-analysis platforms, the top ten anti-AD core targets include APP, CASP3, IL6, BACE1, IL1B, ACE, PSEN1, GAPDH, GSK3B and ACHE.” | 0.98 | hgnc_dict_v1 |
Multiple system atrophy with amyloid-β-predominant Alzheimer's disease neuropathologic change.
PMID 38712319 | PMCID PMC11073746 | DOI 10.1093/braincomms/fcae141 · Brain communications · 2024 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PSEN1 | “We performed genetic testing for APOE, MAPT, PSEN1, PSEN2 and APP.” | 0.98 | hgnc_dict_v1 |
| phenotype | Alzheimer disease | “Multiple system atrophy with amyloid-β-predominant Alzheimer's disease neuropathologic change.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | APOE | “We performed genetic testing for APOE, MAPT, PSEN1, PSEN2 and APP.” | 0.98 | hgnc_dict_v1 |
| gene | MAPT | “We performed genetic testing for APOE, MAPT, PSEN1, PSEN2 and APP.” | 0.98 | hgnc_dict_v1 |
Epigenetic biomarkers in Alzheimer's disease: Diagnostic and prognostic relevance.
PMID 39490904 | DOI 10.1016/j.arr.2024.102556 · Ageing research reviews · 2024 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PSEN1 | “DNA methylation patterns in genes such as APP, PSEN1, and PSEN2 are highlighted for their strong associations with AD pathology.” | 0.98 | hgnc_dict_v1 |
| phenotype | Alzheimer disease | “Epigenetic biomarkers in Alzheimer's disease: Diagnostic and prognostic relevance.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | APP | “DNA methylation patterns in genes such as APP, PSEN1, and PSEN2 are highlighted for their strong associations with AD pathology.” | 0.98 | hgnc_dict_v1 |
| gene | PSEN2 | “DNA methylation patterns in genes such as APP, PSEN1, and PSEN2 are highlighted for their strong associations with AD pathology.” | 0.98 | hgnc_dict_v1 |
Molecular Genetics of Early- and Late-Onset Alzheimer's Disease.
PMID 33231156 | DOI 10.2174/1566523220666201123112822 · Current gene therapy · 2021 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PSEN1 | “The genetics of EOAD is extensively understood, with three gene variants such as APP, PSEN1, and PSEN2 leading to the disease.” | 0.98 | hgnc_dict_v1 |
| phenotype | Alzheimer disease | “Molecular Genetics of Early- and Late-Onset Alzheimer's Disease.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | APP | “The genetics of EOAD is extensively understood, with three gene variants such as APP, PSEN1, and PSEN2 leading to the disease.” | 0.98 | hgnc_dict_v1 |
| gene | PSEN2 | “The genetics of EOAD is extensively understood, with three gene variants such as APP, PSEN1, and PSEN2 leading to the disease.” | 0.98 | hgnc_dict_v1 |
Genetic Study of Alzheimer's Disease in Saudi Population.
PMID 30636737 | DOI 10.3233/JAD-180415 · Journal of Alzheimer's disease : JAD · 2019 · 12 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PSEN1 | “METHODS: Comprehensive screening for point mutations was carried out by direct sequencing of coding regions in the three known AD causative genes: PSEN1, PSEN2, APP, as well as the AD associated gene SORL1.” | 0.98 | hgnc_dict_v1 |
| phenotype | Alzheimer disease | “Genetic Study of Alzheimer's Disease in Saudi Population.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | PSEN2 | “METHODS: Comprehensive screening for point mutations was carried out by direct sequencing of coding regions in the three known AD causative genes: PSEN1, PSEN2, APP, as well as the AD associated gene SORL1.” | 0.98 | hgnc_dict_v1 |
| gene | APP | “METHODS: Comprehensive screening for point mutations was carried out by direct sequencing of coding regions in the three known AD causative genes: PSEN1, PSEN2, APP, as well as the AD associated gene SORL1.” | 0.98 | hgnc_dict_v1 |
Unexpected partial correction of metabolic and behavioral phenotypes of Alzheimer's APP/PSEN1 mice by gene targeting of diabetes/Alzheimer's-related Sorcs1.
PMID 26916443 | PMCID PMC4766719 | DOI 10.1186/s40478-016-0282-y · Acta neuropathologica communications · 2016 · 6 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | PSEN1 | “Unexpected partial correction of metabolic and behavioral phenotypes of Alzheimer's APP/PSEN1 mice by gene targeting of diabetes/Alzheimer's-related Sorcs1.” | 0.98 | hgnc_dict_v1 |
| phenotype | Alzheimer disease | “INTRODUCTION: Insulin resistance and type 2 diabetes mellitus (T2D) are associated with increased risk for cognitive impairment, Alzheimer's disease (AD) and vascular dementia.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | APP | “Unexpected partial correction of metabolic and behavioral phenotypes of Alzheimer's APP/PSEN1 mice by gene targeting of diabetes/Alzheimer's-related Sorcs1.” | 0.98 | hgnc_dict_v1 |
| gene | SORCS1 | “SORCS1 encodes a protein-sorting molecule genetically linked to both T2D and AD.” | 0.98 | hgnc_dict_v1 |