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DNASE1L3 and systemic lupus erythematosus are reported together in 3 articles.
Gene
DNASE1L3
- HGNC
- HGNC:2959
3articles
3mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Systemic lupus erythematosus
191articles
191mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
3 records shown · first 60Genetic and phenotypic landscape of monogenic lupus: insights from an international cohort.
PMID 41850754 | PMCID PMC13007097 | DOI 10.1136/lupus-2025-001918 · Lupus science & medicine · 2026 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | DNASE1L3 | “The most frequently implicated genes were C1Q (26%) and DNASE1L3 (25%), representing complement and type I interferon pathways, respectively.” | 0.98 | hgnc_dict_v1 |
| phenotype | systemic lupus erythematosus | “Genetic and phenotypic landscape of monogenic lupus: insights from an international cohort.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | SSB | “Genotype-phenotype analysis revealed that C1Q pathway defects were significantly associated with neurologic involvement, recurrent infections and anti-Sjögren's syndrome antibody A (SSA)/SSB positivity, defining a characteristic clinical profile.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia | “METHODS: We conducted a retrospective multicentre study of 100 children with genetically confirmed monogenic lupus diagnosed before the age of 14 years. Patients were enrolled between 2000 and 2025 from centres in Saudi Arabia, Iran, Russia, Italy, Palestine and Oman.” | 0.95 | saudi_context_rules_v1 |
An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus.
PMID 27821515 | DOI 10.1177/0961203316676382 · Lupus · 2017 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | DNASE1L3 | “We describe the third family in the world, after Arabian and Turkish ones, displaying an autosomal recessive autoimmune disease (AID), mimicking systemic lupus erythematosus (SLE), with unusual manifestations due to a homozygous frame-shift variant in DNASE1L3.” | 0.98 | hgnc_dict_v1 |
| phenotype | systemic lupus erythematosus | “An autosomal recessive DNASE1L3-related autoimmune disease with unusual clinical presentation mimicking systemic lupus erythematosus.” | 0.98 | phenotype_alias_lexicon_v2 |
| population | Population | “The same mutation was previously reported in three sisters, born from consanguineous parents and affected with hypocomplementemic urticarial vasculitis syndrome (HUVS).” | 0.80 | saudi_context_rules_v1 |
| variant | c.289_290delAC | “Through specific genetic tests we identified a homozygous 2 bp-deletion c.289_290delAC (NM_004944.2) in DNASE1L3, predicting frameshift and premature truncation (p.Thr97Ilefs*2).” | 0.95 | hgvs_regex_v1 |
Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus.
PMID 22019780 | DOI 10.1038/ng.975 · Nature genetics · 2011 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | DNASE1L3 | “Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus.” | 0.98 | hgnc_dict_v1 |
| phenotype | systemic lupus erythematosus | “Loss-of-function variant in DNASE1L3 causes a familial form of systemic lupus erythematosus.” | 0.98 | phenotype_alias_lexicon_v2 |