Genopathy
Gene-Disorder Association · Article
Gene
TNFRSF1A
TNF Receptor Superfamily Member 1A
Disorder
Tnf Receptor-Associated Periodic Fever Syndrome
First reported 2001
Supporting publications 53
Key publication · gene–disorder The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers.American journal of human genetics · 2001
Key publication · disorder [Association of tuberculosis with syphilis].Problemy tuberkuleza · 1975
Manually curated
Association Review

In brief

The association between TNFRSF1A (TNF Receptor Superfamily Member 1A) and Tnf Receptor-Associated Periodic Fever Syndrome is well established and manually curated, with its 2 contributing sources — 1 of them expert-curated — recording likely-pathogenic variants.

Sources 2
Clinical variants 444
Symptoms 0
Compounds 0
Trials 0
Publications 53
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
TNFRSF1A

The gene

1 source summary

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

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04
Tnf Receptor-Associated Periodic Fever Syndrome

The disorder

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

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05
ClinVar and variant evidence

Genetic basis

444 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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06
Literature

Reading

53 publications

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

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07
Provenance

References & sources

11 references

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

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