Genopathy
Gene-Disorder Association · Article
Gene
AIP
AHR Interacting HSP90 Co-Chaperone
Disorder
Gigantism
First reported 2007
Supporting publications 3
Key publication · gene–disorder Germline inactivating mutations of the aryl hydrocarbon receptor-interacting protein gene in a large cohort of sporadic acromegaly: mutations are found in a subset of young patients with macroadenomas.European journal of endocrinology · 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 Gigantism is a manually-curated gene–disease association, drawing on a single expert-curated source, which records a causative germline mutation.

Sources 1
Clinical variants 0
Symptoms 21
Compounds 0
Trials 0
Publications 3
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

1 source

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

Request access
03
AIP

The gene

1 source summary

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

Request access
04
Gigantism

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

20 clinical features

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

Request access
06
Mechanism overlap

Shared mechanisms

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

Request access
07
Literature

Reading

3 publications

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

Request access
08
Provenance

References & sources

8 references

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

Request access