Genopathy
Gene-Disorder Association · Article
Gene
HLA-DRB1
Major Histocompatibility Complex, Class II, DR Beta 1
Disorder
Sarcoidosis 1
First reported 1995
Supporting publications 4
Key publication · gene–disorder Clinical features of sarcoidosis in relation to HLA distribution and HLA-DRB3 genotyping by PCR-RFLP.The British journal of ophthalmology · 1995
Key publication · disorder Hepatic manifestations of sarcoidosis and other granulomatous diseases; a study based on histological examination of tissue obtained by needle biopsy of the liver.The Yale journal of biology and medicine · 1950
Manually curated
Association Review

In brief

The association between HLA-DRB1 (Major Histocompatibility Complex, Class II, DR Beta 1) and Sarcoidosis 1 is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis and a susceptibility locus.

Sources 3
Clinical variants 0
Symptoms 132
Compounds 0
Trials 0
Publications 4
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

3 sources

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

Request access
03
HLA-DRB1

The gene

1 source summary

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

Request access
04
Sarcoidosis 1

The disorder

25 database identifiers

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

Request access
05
Phenotype

Clinical features

101 clinical features

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

Request access
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.

Request access
07
Mechanism overlap

Shared mechanisms

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

4 publications

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

Request access
09
Provenance

References & sources

12 references

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

Request access