Genopathy
Gene-Disorder Association · Article
Gene
HLA-DQB1
Major Histocompatibility Complex, Class II, DQ Beta 1
Disorder
Bullous Pemphigoid
First reported 2000
Supporting publications 3
Key publication · gene–disorder Polymorphisms of HLA-DR and -DQ genes in Japanese patients with bullous pemphigoid.The Journal of dermatology · 2000
Key publication · disorder 30 Bullous pemphigoid.Dermatologica · 1956
Manually curated
Association Review

In brief

The association between HLA-DQB1 (Major Histocompatibility Complex, Class II, DQ Beta 1) and Bullous Pemphigoid 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 15
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.

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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-DQB1

The gene

1 source summary

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

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04
Bullous Pemphigoid

The disorder

11 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

15 clinical features

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

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06
Population genetics

GWAS signals

1 GWAS phenotype

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

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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

3 publications

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

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09
Provenance

References & sources

8 references

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

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