Genopathy
Gene-Disorder Association · Article
Gene
AQP1
Aquaporin 1 (Colton Blood Group)
Disorder
Hermansky-Pudlak Syndrome 2
First reported 1988
Key publication · disorder Comparison of the amino acid sequences of human protamines HP2 and HP3 and of intermediate basic nuclear proteins HPS1 and HPS2. Structural evidence that HPS1 and HPS2 are pro-protamines.The Journal of biological chemistry · 1988
Manually curated
Association Review

In brief

The association between AQP1 (Aquaporin 1 (Colton Blood Group)) and Hermansky-Pudlak Syndrome 2 is reported, with clinical genetic testing available.

Sources 1
Clinical variants 0
Symptoms 65
Compounds 0
Trials 0
Publications 0
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
AQP1

The gene

2 source summaries

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

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04
Hermansky-Pudlak Syndrome 2

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

45 clinical features

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

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06
Provenance

References & sources

6 references

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

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