Genopathy
Gene-Disorder Association · Article
Gene
AIP
AHR Interacting HSP90 Co-Chaperone
Disorder
Acromegaly
First reported 2007
Supporting publications 9
Key publication · gene–disorder Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations.Proceedings of the National Academy of Sciences of the United States of America · 2007
Key publication · disorder Local gigantism (a manifestation of neurofibromatosis): its relation to general gigantism and to acromegaly; illustrating the influence of intrinsic factors in disease when development of the body is abnormal.The American journal of pathology · 1950
Manually curated
Association Review

In brief

The association between AIP (AHR Interacting HSP90 Co-Chaperone) and Acromegaly is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a susceptibility locus.

Sources 1
Clinical variants 0
Symptoms 93
Compounds 0
Trials 0
Publications 9
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

1 source

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

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03
AIP

The gene

1 source summary

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

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04
Acromegaly

The disorder

10 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

92 clinical features

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

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06
Mechanism overlap

Shared mechanisms

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

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07
Literature

Reading

9 publications

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

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08
Provenance

References & sources

12 references

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

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