AutismKB 2.0

Annotation Detail for AIRE


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Basic Information Top
Gene Symbol:AIRE ( AIRE1,APECED,APS1,APSI,PGA1 )
Gene Full Name: autoimmune regulator
Band: 21q22.3
Quick LinksEntrez ID:326; OMIM: 607358; Uniprot ID:AIRE_HUMAN; ENSEMBL ID: ENSG00000160224; HGNC ID: 360
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04120Ubiquitin mediated proteolysis
hsa05340Primary immunodeficiency
No data
No data
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
Immune system diseases
Primary immunodeficiency
H00107Other well-defined immunodeficiency syndromes
Desease IDDesease Name
1767Immunologic deficiency syndrome
1807Autoimmune disease
1832Congenital abnormality
1868Thymoma
2123Vitiligo
2230Alopecia
Desease Name
sclerosis, systemic
IMMUNE
No data
Desease Name
Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia
Comparative Toxicogenomics Database Top
No data
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:C538275 Autoimmune polyendocrinopathy syndrome, type 1 marker/mechanism
MESH:D002177 Candidiasis marker/mechanism 12050215
MESH:D016884 Polyendocrinopathies, Autoimmune marker/mechanism 16982213
Pathway ID Pathway Name
KEGG:05340 Primary immunodeficiency
KEGG:04120 Ubiquitin mediated proteolysis
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA24654
  • No data
    Releated disease ID Related disease Name
    PA443888Diabetes Mellitus, Type 1
    No data
    Drug Bank Top

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    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018