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Every result shows the extracted entities next to the sentences that support them; rows for the searched entities come first.
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AIRE and intellectual disability 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
Intellectual disability
- HPO
- HP:0001249
736articles
736mentions
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 60Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy.
PMID 21197407 | PMCID PMC3010696 | DOI 10.1155/2010/586342 · Clinical & developmental immunology · 2010 · 5 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | AIRE | “Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy (APECED) is a rare autosomal recessive disorder caused by mutations in the autoimmune regulator gene (AIRE).” | 0.98 | hgnc_dict_v1 |
| phenotype | intellectual disability | “Terminal 4q deletion is also a rare cytogenetic abnormality that causes a variable syndrome of dysmorphic features, mental retardation, growth retardation, and heart and limb defects.” | 0.93 | phenotype_alias_lexicon_v2 |
| phenotype | renal failure | “Renal failure associated with APECED and terminal 4q deletion: evidence of autoimmune nephropathy.” | 0.98 | phenotype_alias_lexicon_v2 |
| phenotype | developmental delay | “In addition, he has dysmorphic facial features, growth retardation, and severe global developmental delay.” | 0.98 | phenotype_alias_lexicon_v2 |