Genopathy
Gene-Disorder Association · Article
Gene
HPS3
HPS3 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 1
Disorder
Hermansky-Pudlak Syndrome Due To Bloc-2 Deficiency
Manually curated
Association Review

In brief

The association between HPS3 (HPS3 Biogenesis Of Lysosomal Organelles Complex 2 Subunit 1) and Hermansky-Pudlak Syndrome Due To Bloc-2 Deficiency 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 0
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
HPS3

The gene

1 source summary

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

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04
Hermansky-Pudlak Syndrome Due To Bloc-2 Deficiency

The disorder

5 database identifiers

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

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05
Provenance

References & sources

3 references

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

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