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AIRE and diabetes mellitus are reported together in 2 articles.
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
Diabetes mellitus
2,156articles
2,156mentions
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
2 records shown · first 60Thymic self-antigen expression for the design of a negative/tolerogenic self-vaccine against type 1 diabetes.
PMID 21647405 | PMCID PMC3102425 | DOI 10.1155/2011/349368 · Clinical & developmental immunology · 2011 · 2 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | AIRE | “Insulin-like growth factor 2 (IGF-2) is the dominant member of the insulin family expressed during fetal life by the thymic epithelium under the control of the autoimmune regulator (AIRE) gene/protein.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “Thymic self-antigen expression for the design of a negative/tolerogenic self-vaccine against type 1 diabetes.” | 0.93 | phenotype_alias_lexicon_v2 |
Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients.
PMID 19758376 | DOI 10.1111/j.1399-0004.2009.01278.x · Clinical genetics · 2009 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | AIRE | “Novel and recurrent mutations in the AIRE gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients.” | 0.98 | hgnc_dict_v1 |
| phenotype | diabetes mellitus | “In addition to the cardinal features of APS1, some patients exhibited alopecia, diabetes mellitus, nephrocalcinosis and other phenotypes associated with APS1.” | 0.98 | phenotype_alias_lexicon_v2 |
| variant | p.Ser278Arg | “In addition, it was noted that the non-pathogenic c.834C> G mutation (rs1800520, encoding for p.Ser278Arg) occurs with high incidence in the AIRE gene of Arab individuals.” | 0.95 | hgvs_regex_v1 |
| variant | rs1800520 | “In addition, it was noted that the non-pathogenic c.834C> G mutation (rs1800520, encoding for p.Ser278Arg) occurs with high incidence in the AIRE gene of Arab individuals.” | 0.90 | hgvs_regex_v1 |