Genopathy
Gene-Disorder Association · Article
Gene
BMPR2
Bone Morphogenetic Protein Receptor Type 2
Disorder
Pulmonary Venoocclusive Disease 1, Autosomal Dominant
First reported 2003
Supporting publications 6
Key publication · gene–disorder Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor II.American journal of respiratory and critical care medicine · 2003
Key publication · disorder Pulmonary veno-occlusive disease.Circulation · 1966
Manually curated
Association Review

In brief

The association between BMPR2 (Bone Morphogenetic Protein Receptor Type 2) and Pulmonary Venoocclusive Disease 1, Autosomal Dominant is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 2
Clinical variants 162
Symptoms 12
Compounds 0
Trials 0
Publications 6
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

2 sources

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

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03
BMPR2

The gene

1 source summary

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

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04
Pulmonary Venoocclusive Disease 1, Autosomal Dominant

The disorder

9 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

6 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

162 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

6 publications

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

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09
Provenance

References & sources

11 references

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

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