Gene-Disorder Association · Article
Gene
APP Amyloid Beta Precursor Protein
×
First reported
1990
Supporting publications
106
Manually curated Approved treatment annotated
Association Review
In brief The association between APP (Amyloid Beta Precursor Protein) and Alzheimer'S Disease is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording pathogenic variants.
Sources
2
Clinical variants
368
Symptoms
13
Compounds
6
Trials
108 of 132 via APP compounds
Publications
106
Contents
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 2 sources
Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.
Request access 2 source summaries
A gene summary alongside the source descriptions it was distilled from.
Request access 04
Alzheimer'S Disease
The disorder 18 database identifiers
The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).
Request access 05
ClinVar and variant evidence
Genetic basis 368 clinical variants
ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.
Request access 06
Mechanism overlap
Shared mechanisms 8 shared pathways
Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.
Request access 07
Interventions
Therapeutics 6 compounds & drugs
Gene-targeting drugs and associated compounds, with class, approval status, mechanism, indications and trials.
Request access 08
Human studies
Clinical trials 132 clinical trials
Clinical trials reached through the pair’s compounds, keeping disorder-targeting trials separate from other indications.
Request access 106 publications
Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.
Request access 10
Provenance
References & sources 20 references
Every source and publication cited across this dossier, as one numbered reference list.
Request access 
