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AIRE and Down syndrome are reported together in 1 article.
Gene
AIRE
- HGNC
- HGNC:360
16articles
16mentions
4variants with confirmed gene link
Most co-reported phenotypes (articles)
rheumatoid arthritis 3diabetes mellitus 2Down syndrome 1breast cancer 1developmental delay 1intellectual disability 1renal failure 1systemic lupus erythematosus 1
Reported variants (articles · ClinVar status)
Phenotype
Down syndrome
171articles
171mentions
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
1 records shown · first 60SUMO3/RUNX1/AIRE/RCAN1 and DNMT3L/DYRK1A/Let-7c-5p/VEGF axes: immune dysregulation and genetic susceptibility as pulmonary risk factors in Down syndrome.
PMID 42245386 | PMCID PMC13230349 | DOI 10.1007/s13205-026-04879-9 · 3 Biotech · 2026 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | AIRE | “SUMO3/RUNX1/AIRE/RCAN1 and DNMT3L/DYRK1A/Let-7c-5p/VEGF axes: immune dysregulation and genetic susceptibility as pulmonary risk factors in Down syndrome.” | 0.98 | hgnc_dict_v1 |
| phenotype | Down syndrome | “SUMO3/RUNX1/AIRE/RCAN1 and DNMT3L/DYRK1A/Let-7c-5p/VEGF axes: immune dysregulation and genetic susceptibility as pulmonary risk factors in Down syndrome.” | 0.98 | phenotype_alias_lexicon_v2 |
| gene | SUMO3 | “SUMO3/RUNX1/AIRE/RCAN1 and DNMT3L/DYRK1A/Let-7c-5p/VEGF axes: immune dysregulation and genetic susceptibility as pulmonary risk factors in Down syndrome.” | 0.98 | hgnc_dict_v1 |
| gene | RUNX1 | “SUMO3/RUNX1/AIRE/RCAN1 and DNMT3L/DYRK1A/Let-7c-5p/VEGF axes: immune dysregulation and genetic susceptibility as pulmonary risk factors in Down syndrome.” | 0.98 | hgnc_dict_v1 |