Genopathy
Gene-Disorder Association · Article
Gene
APP
Amyloid Beta Precursor Protein
Disorder
Cerebral Amyloid Angiopathy, App-Related
First reported 1991
Supporting publications 37
Key publication · gene–disorder DNA diagnosis for hereditary cerebral hemorrhage with amyloidosis (Dutch type)American journal of human genetics · 1991
Key publication · disorder Congophilic angiopathy complicated by surgery and massive hemorrhage. A light and electron microscopic study.The American journal of pathology · 1975
Manually curated
Association Review

In brief

The association between APP (Amyloid Beta Precursor Protein) and Cerebral Amyloid Angiopathy, App-Related is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 26
Symptoms 35
Compounds 0
Trials 0
Publications 37
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

5 sources

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

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03
APP

The gene

2 source summaries

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

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04
Cerebral Amyloid Angiopathy, App-Related

The disorder

21 database identifiers

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

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05
Phenotype

Clinical features

26 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

26 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

37 publications

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

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09
Provenance

References & sources

17 references

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

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