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PSEN1 and intellectual disability are reported together in 1 article.
Gene
PSEN1
- HGNC
- HGNC:9508
8articles
8mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Intellectual disability
- HPO
- HP:0001249
736articles
736mentions
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
1 records shown · first 60Unexpected 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 | intellectual disability | “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 |