Genopathy
Gene-Disorder Association · Article
Gene
TREX1
Three Prime Repair Exonuclease 1
Disorder
Systemic Lupus Erythematosus
First reported 1950
Supporting publications 4
Key publication · disorder Blood factor in acute disseminated lupus erythematosus; determination of gamma globulin as specific plasma fraction.The American journal of the medical sciences · 1950
Manually curated
Association Review

In brief

The association between TREX1 (Three Prime Repair Exonuclease 1) and Systemic Lupus Erythematosus is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, causative variation, and a susceptibility locus.

Sources 5
Clinical variants 24
Symptoms 64
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

5 sources

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

Request access
03
TREX1

The gene

1 source summary

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

Request access
04
Systemic Lupus Erythematosus

The disorder

23 database identifiers

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

Request access
05
Phenotype

Clinical features

52 clinical features

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

Request access
06
ClinVar and variant evidence

Genetic basis

24 clinical variants

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

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

13 references

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

Request access