Genopathy
Gene-Disorder Association · Article
Gene
HLA-B
Major Histocompatibility Complex, Class I, B
Disorder
Pulmonary Arterial Hypertension Associated With Connective Tissue Disease
First reported 2003
Key publication · disorder Effects of the oral endothelin-receptor antagonist bosentan on echocardiographic and doppler measures in patients with pulmonary arterial hypertension.Journal of the American College of Cardiology · 2003
Manually curated
Association Review

In brief

The association between HLA-B (Major Histocompatibility Complex, Class I, B) and Pulmonary Arterial Hypertension Associated With Connective Tissue Disease 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 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
HLA-B

The gene

1 source summary

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

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04
Pulmonary Arterial Hypertension Associated With Connective Tissue Disease

The disorder

3 database identifiers

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

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05
Population genetics

GWAS signals

3 GWAS phenotypes

Gene-associated GWAS phenotypes matching the disorder, with best SNP, score, risk-allele frequency and effect size.

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06
Provenance

References & sources

4 references

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

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