Genopathy
Gene-Disorder Association · Article
Gene
BTNL2
Butyrophilin Like 2
Disorder
Sarcoidosis 1
First reported 2005
Supporting publications 4
Key publication · gene–disorder Sarcoidosis is associated with a truncating splice site mutation in BTNL2.Nature genetics · 2005
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 BTNL2 (Butyrophilin Like 2) and Sarcoidosis 1 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 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.

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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
BTNL2

The gene

1 source summary

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

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04
Sarcoidosis 1

The disorder

25 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

101 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

4 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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