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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
Term:autoimmune polyendocrine syndrome type 1
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Accession:DOID:0050167 term browser browse the term
Definition:An autoimmune polyendocrine syndrome that is inherited in an autosomal recessive fashion, which is characterized by abnormal functioning of the immune system that causes auto-reactivity against endocrine organs. (DO)
Synonyms:exact_synonym: APS I;   APS type 1;   APS1;   PGA I;   Whitaker syndrome;   autoimmune polyendocrine syndrome type I, with or without reversible metaphyseal dysplasia;   autoimmune polyendocrinopathy syndrome type 1;   autoimmune polyendocrinopathy syndrome type I;   autoimmune polyendocrinopathy syndrome type I, autosomal dominant;   autoimmune polyendocrinopathy syndrome type I, with reversible metaphyseal dysplasia;   autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy;   autoimmune polyglandular syndrome I;   autoimmune polyglandular syndrome type 1;   autoimmune polyglandular syndrome type I;   hypoadrenocorticism with hypoparathyroidism and superficial moniliasis
 narrow_synonym: polyglandular deficiency syndrome, Persian-Jewish type
 primary_id: MESH:C538275
 alt_id: OMIM:240300
 xref: GARD:8466


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autoimmune polyendocrine syndrome type 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AIRE autoimmune regulator IAGP
EXP
ISS		 ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1
ClinVar Annotator: match by term: AUTOIMMUNE POLYENDOCRINOPATHY SYNDROME, TYPE I, AUTOSOMAL DOMINANT
CTD Direct Evidence: marker/mechanism
OMIM:240300		 ClinVar
OMIM
CTD
MouseDO		 PMID:1836330 PMID:2943776 PMID:6031738 PMID:9398839 PMID:9398840 More... NCBI chr21:44,285,876...44,298,648
Ensembl chr21:44,285,838...44,298,648 		JBrowse link
G CFAP410 cilia and flagella associated protein 410 IAGP ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:44,328,944...44,339,390
Ensembl chr21:44,328,944...44,339,402 		JBrowse link
G DNMT3L DNA methyltransferase 3 like IAGP ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:44,246,339...44,261,897
Ensembl chr21:44,246,339...44,262,216 		JBrowse link
G GH1 growth hormone 1 IDA RGD PMID:22506635 RGD:10401267 NCBI chr17:63,917,203...63,918,839
Ensembl chr17:63,917,200...63,918,839 		JBrowse link
G GHRH growth hormone releasing hormone IDA RGD PMID:22506635 RGD:10401267 NCBI chr20:37,251,086...37,261,814
Ensembl chr20:37,251,086...37,261,819 		JBrowse link
G ICOSLG inducible T cell costimulator ligand IAGP ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:44,216,981...44,240,943
Ensembl chr21:44,215,382...44,241,446 		JBrowse link
G ITGB2 integrin subunit beta 2 IAGP ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:44,885,953...44,928,815
Ensembl chr21:44,885,953...44,931,989 		JBrowse link
G KRTAP10-1 keratin associated protein 10-1 IAGP ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:44,538,981...44,540,195
Ensembl chr21:44,538,981...44,540,195 		JBrowse link
G KRTAP10-10 keratin associated protein 10-10 IAGP ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:44,637,356...44,638,455
Ensembl chr21:44,637,356...44,638,455 		JBrowse link
G KRTAP10-11 keratin associated protein 10-11 IAGP ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:44,646,414...44,647,650
Ensembl chr21:44,646,414...44,647,650 		JBrowse link
G KRTAP10-12 keratin associated protein 10-12 IAGP ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:44,697,172...44,698,044
Ensembl chr21:44,697,172...44,698,044 		JBrowse link
G KRTAP10-2 keratin associated protein 10-2 IAGP ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:44,550,357...44,551,505
Ensembl chr21:44,550,357...44,551,505 		JBrowse link
G KRTAP10-3 keratin associated protein 10-3 IAGP ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:44,557,790...44,558,795
Ensembl chr21:44,557,790...44,558,795 		JBrowse link
G KRTAP10-4 keratin associated protein 10-4 IAGP ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:44,573,729...44,575,371
Ensembl chr21:44,573,729...44,575,371 		JBrowse link
G KRTAP10-5 keratin associated protein 10-5 IAGP ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:44,579,455...44,580,604
Ensembl chr21:44,579,455...44,580,604 		JBrowse link
G KRTAP10-6 keratin associated protein 10-6 IAGP ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:44,591,268...44,592,505
Ensembl chr21:44,591,268...44,592,505 		JBrowse link
G KRTAP10-7 keratin associated protein 10-7 IAGP ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:44,600,597...44,602,174
Ensembl chr21:44,600,597...44,602,174 		JBrowse link
G KRTAP10-8 keratin associated protein 10-8 IAGP ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:44,612,079...44,612,954
Ensembl chr21:44,612,079...44,612,954 		JBrowse link
G KRTAP10-9 keratin associated protein 10-9 IAGP ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:44,627,093...44,628,378
Ensembl chr21:44,627,093...44,628,378 		JBrowse link
G KRTAP12-1 keratin associated protein 12-1 IAGP ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:44,681,576...44,682,163
Ensembl chr21:44,681,576...44,682,163 		JBrowse link
G KRTAP12-2 keratin associated protein 12-2 IAGP ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:44,666,189...44,666,927
Ensembl chr21:44,666,189...44,666,927 		JBrowse link
G KRTAP12-3 keratin associated protein 12-3 IAGP ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:44,657,932...44,658,341
Ensembl chr21:44,657,932...44,658,341 		JBrowse link
G KRTAP12-4 keratin associated protein 12-4 IAGP ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:44,654,213...44,654,659
Ensembl chr21:44,654,213...44,654,659 		JBrowse link
G LOC130066813 ATAC-STARR-seq lymphoblastoid silent region 13378 IAGP ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:9536098 PMID:10946904 PMID:11836330 PMID:15811934 PMID:17289071 More... NCBI chr21:44,296,280...44,296,449 JBrowse link
G LOC130066814 ATAC-STARR-seq lymphoblastoid active region 18565 IAGP ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:18682433 PMID:28492532 NCBI chr21:44,297,579...44,297,638 JBrowse link
G LRRC3 leucine rich repeat containing 3 IAGP ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:44,455,510...44,462,196
Ensembl chr21:44,455,510...44,462,196 		JBrowse link
G PFKL phosphofructokinase, liver type IAGP ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:44,300,053...44,327,373
Ensembl chr21:44,300,051...44,327,376 		JBrowse link
G PTTG1IP PTTG1 interacting protein IAGP ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:44,849,598...44,873,690
Ensembl chr21:44,849,585...44,873,903 		JBrowse link
G SUMO3 small ubiquitin like modifier 3 IAGP ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:44,805,617...44,818,062
Ensembl chr21:44,805,617...44,818,779 		JBrowse link
G TRPM2 transient receptor potential cation channel subfamily M member 2 IAGP ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:44,353,621...44,442,644
Ensembl chr21:44,350,163...44,443,081 		JBrowse link
G TSPEAR thrombospondin type laminin G domain and EAR repeats IAGP ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:44,497,893...44,711,572
Ensembl chr21:44,497,893...44,711,572 		JBrowse link
G UBE2G2 ubiquitin conjugating enzyme E2 G2 IAGP ClinVar Annotator: match by term: Polyglandular autoimmune syndrome, type 1 ClinVar PMID:28492532 NCBI chr21:44,768,580...44,801,820
Ensembl chr21:44,768,580...44,801,826 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 35773
    disease of anatomical entity 32516
      endocrine system disease 7754
        autoimmune disease of endocrine system 419
          autoimmune polyendocrine syndrome 35
            autoimmune polyendocrine syndrome type 1 32
Path 2
Term Annotations click to browse term
  disease 35773
    disease of anatomical entity 32516
      Immune & Inflammatory Diseases 6740
        immune system disease 5903
          primary immunodeficiency disease 5027
            autoimmune disease 2542
              autoimmune disease of endocrine system 419
                autoimmune polyendocrine syndrome 35
                  autoimmune polyendocrine syndrome type 1 32
paths to the root