Genopathy
Gene-Disorder Association · Article
Gene
PSEN2
Presenilin 2
Disorder
Alzheimer Disease 4
First reported 1975
Supporting publications 32
Key publication · disorder Effect of histidine on purine nucleotide synthesis and utilization in Neurospora crassa.Journal of bacteriology · 1975
Manually curated
Association Review

In brief

The association between PSEN2 (Presenilin 2) and Alzheimer Disease 4 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 4
Clinical variants 220
Symptoms 21
Compounds 0
Trials 0
Publications 32
01
At a glance

Association overview

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

Request access
02
Provenance

Evidence and sources

4 sources

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

Request access
03
PSEN2

The gene

2 source summaries

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

Request access
04
Alzheimer Disease 4

The disorder

6 database identifiers

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

Request access
05
Phenotype

Clinical features

18 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

220 clinical variants

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

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

32 publications

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

Request access
09
Provenance

References & sources

15 references

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

Request access