Genopathy
Gene-Disorder Association · Article
Gene
PSEN1
Presenilin 1
Disorder
Dementia
First reported 1996
Supporting publications 44
Key publication · gene–disorder Presenilin-1 polymorphism in patients with Alzheimer's disease, vascular dementia and alcohol-associated dementia in Japanese population.Acta neurologica Scandinavica · 1996
Key publication · disorder [Certain dementias in children].Pediatricke listy · 1950
Manually curated
Association Review

In brief

The association between PSEN1 (Presenilin 1) and Dementia is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.

Sources 2
Clinical variants 4
Symptoms 12
Compounds 0
Trials 0
Publications 44
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

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02
Provenance

Evidence and sources

2 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

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03
PSEN1

The gene

2 source summaries

A gene summary alongside the source descriptions it was distilled from.

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04
Dementia

The disorder

7 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

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05
ClinVar and variant evidence

Genetic basis

4 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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06
Literature

Reading

44 publications

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

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07
Provenance

References & sources

13 references

Every source and publication cited across this dossier, as one numbered reference list.

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