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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:Aicardi-Goutieres Syndrome 1
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Accession:DOID:9001350 term browser browse the term
Synonyms:exact_synonym: AGS1;   Aicardi-Goutieres Syndrome 1, Autosomal Dominant
 primary_id: OMIM:225750
 xref: NCI:C165501

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Aicardi-Goutieres Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amigo3 adhesion molecule with Ig like domain 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,641,716...3,644,504
Ensembl chrNW_004624730:3,642,603...3,644,135 		JBrowse link
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,366,023...3,372,266
Ensembl chrNW_004624730:3,366,023...3,371,425 		JBrowse link
G Apeh acylaminoacyl-peptide hydrolase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,601,792...3,612,048
Ensembl chrNW_004624730:3,601,714...3,612,048 		JBrowse link
G Arih2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,953,649...3,023,716
Ensembl chrNW_004624730:2,953,669...3,023,042 		JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More... NCBI chrNW_004624730:2,413,474...2,431,012
Ensembl chrNW_004624730:2,413,014...2,430,827 		JBrowse link
G Bsn bassoon presynaptic cytomatrix protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,498,118...3,600,488
Ensembl chrNW_004624730:3,498,257...3,593,450 		JBrowse link
G Camkv CaM kinase like vesicle associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,775,961...3,805,137
Ensembl chrNW_004624730:3,775,969...3,788,020 		JBrowse link
G Ccdc71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,173,882...3,179,251
Ensembl chrNW_004624730:3,175,143...3,176,528 		JBrowse link
G Cdhr4 cadherin related family member 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,707,115...3,714,615
Ensembl chrNW_004624730:3,707,040...3,714,348 		JBrowse link
G Celsr3 cadherin EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,650,096...2,675,930
Ensembl chrNW_004624730:2,651,756...2,675,923 		JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,569,510...2,599,959 JBrowse link
G CUNH3orf62 chromosome unknown C3orf62 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,249,440...3,252,795
Ensembl chrNW_004624730:3,249,482...3,251,966 		JBrowse link
G CUNH3orf84 chromosome unknown C3orf84 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,187,956...3,198,064
Ensembl chrNW_004624730:3,188,765...3,198,025 		JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,417,356...3,488,300
Ensembl chrNW_004624730:3,417,347...3,488,879 		JBrowse link
G Dalrd3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,063,241...3,066,253
Ensembl chrNW_004624730:3,063,245...3,066,453 		JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,645,768...3,648,157
Ensembl chrNW_004624730:3,645,768...3,648,165 		JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:4,096,061...4,126,538
Ensembl chrNW_004624730:4,103,905...4,126,737 		JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:4,064,982...4,072,172
Ensembl chrNW_004624730:4,066,222...4,071,316 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,313,773...3,314,870
Ensembl chrNW_004624730:3,313,972...3,314,626 		JBrowse link
G Hyal1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:4,161,204...4,165,554
Ensembl chrNW_004624730:4,160,557...4,165,589 		JBrowse link
G Hyal3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:4,154,862...4,160,635
Ensembl chrNW_004624730:4,151,688...4,160,614 		JBrowse link
G Ifrd2 interferon related developmental regulator 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:4,148,888...4,154,698
Ensembl chrNW_004624730:4,148,888...4,154,496 		JBrowse link
G Iho1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,208,648...3,249,281
Ensembl chrNW_004624730:3,215,447...3,239,060 		JBrowse link
G Impdh2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,071,132...3,075,870
Ensembl chrNW_004624730:3,071,141...3,075,882 		JBrowse link
G Inka1 inka box actin regulator 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,717,980...3,720,343
Ensembl chrNW_004624730:3,718,573...3,721,001 		JBrowse link
G Ip6k1 inositol hexakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,648,461...3,704,664
Ensembl chrNW_004624730:3,648,461...3,704,646 		JBrowse link
G Ip6k2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,697,098...2,734,198
Ensembl chrNW_004624730:2,697,098...2,734,636 		JBrowse link
G Klhdc8b kelch domain containing 8B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,182,881...3,187,714
Ensembl chrNW_004624730:3,182,827...3,187,714 		JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,145,643...3,158,781
Ensembl chrNW_004624730:3,145,643...3,159,101 		JBrowse link
G LOC101719627 cytochrome b-c1 complex subunit 1, mitochondrial ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,603,301...2,613,105
Ensembl chrNW_004624730:2,603,089...2,613,828 		JBrowse link
G Lsmem2 leucine rich single-pass membrane protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:4,144,588...4,148,953 JBrowse link
G Mon1a MON1 homolog A, secretory trafficking associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,818,653...3,833,697
Ensembl chrNW_004624730:3,821,485...3,841,452 		JBrowse link
G Mst1 macrophage stimulating 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,612,467...3,617,257
Ensembl chrNW_004624730:3,610,241...3,617,530 		JBrowse link
G Mst1r macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,802,452...3,818,593
Ensembl chrNW_004624730:3,800,749...3,822,389 		JBrowse link
G Naa80 N-alpha-acetyltransferase 80, NatH catalytic subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:4,157,714...4,159,927 JBrowse link
G Nckipsd NCK interacting protein with SH3 domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,685,256...2,695,387
Ensembl chrNW_004624730:2,684,762...2,695,705 		JBrowse link
G Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,069,083...3,070,675
Ensembl chrNW_004624730:3,069,115...3,070,675 		JBrowse link
G Nicn1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,372,456...3,377,308
Ensembl chrNW_004624730:3,372,676...3,377,279 		JBrowse link
G P4htm prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,042,699...3,056,632
Ensembl chrNW_004624730:3,043,222...3,056,645 		JBrowse link
G Pfkfb4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,519,661...2,566,664
Ensembl chrNW_004624730:2,519,678...2,563,059 		JBrowse link
G Prkar2a protein kinase cAMP-dependent type II regulatory subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,743,921...2,807,270 JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,123,877...3,130,787
Ensembl chrNW_004624730:3,120,958...3,130,757 		JBrowse link
G Qrich1 glutamine rich 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,076,106...3,123,002 JBrowse link
G Rbm5 RNA binding motif protein 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,969,445...4,000,587
Ensembl chrNW_004624730:3,969,065...4,001,335 		JBrowse link
G Rbm6 RNA binding motif protein 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,840,456...3,951,643 JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,316,122...3,361,820 JBrowse link
G Rnaseh2b ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004624748:3,246,707...3,339,443 JBrowse link
G Rnf123 ring finger protein 123 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,617,488...3,645,797
Ensembl chrNW_004624730:3,618,269...3,645,797 		JBrowse link
G Sema3b semaphorin 3B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:4,131,329...4,142,126
Ensembl chrNW_004624730:4,131,057...4,142,374 		JBrowse link
G Sema3f semaphorin 3F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:4,035,909...4,064,796
Ensembl chrNW_004624730:4,035,874...4,065,667 		JBrowse link
G Shisa5 shisa family member 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,416,486...2,448,836
Ensembl chrNW_004624730:2,413,014...2,449,065 		JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,833,785...2,860,711
Ensembl chrNW_004624730:2,832,233...2,860,796 		JBrowse link
G Slc26a6 solute carrier family 26 member 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,639,940...2,649,358
Ensembl chrNW_004624730:2,640,208...2,649,203 		JBrowse link
G Slc38a3 solute carrier family 38 member 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:4,078,084...4,092,330
Ensembl chrNW_004624730:4,078,014...4,096,080 		JBrowse link
G Tcta T cell leukemia translocation altered ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,362,037...3,365,621
Ensembl chrNW_004624730:3,362,039...3,364,301 		JBrowse link
G Tmem89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,634,999...2,637,832
Ensembl chrNW_004624730:2,636,577...2,637,473 		JBrowse link
G Traip TRAF interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,749,183...3,775,062
Ensembl chrNW_004624730:3,748,894...3,774,489 		JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 OMIM
ClinVar		 PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More... NCBI chrNW_004624730:2,431,270...2,433,010
Ensembl chrNW_004624730:2,431,999...2,432,959 		JBrowse link
G Uba7 ubiquitin like modifier activating enzyme 7 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,720,516...3,729,586
Ensembl chrNW_004624730:3,718,573...3,730,097 		JBrowse link
G Ucn2 urocortin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,567,154...2,568,387 JBrowse link
G Usp19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,134,419...3,145,512
Ensembl chrNW_004624730:3,133,595...3,146,221 		JBrowse link
G Usp4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,252,980...3,306,439
Ensembl chrNW_004624730:3,253,407...3,306,341 		JBrowse link
G Wdr6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,058,947...3,063,709
Ensembl chrNW_004624730:3,055,610...3,063,153 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14089
    disease of anatomical entity 13754
      nervous system disease 12030
        Nervous System Malformations 2238
          Aicardi-Goutieres syndrome 198
            Aicardi-Goutieres Syndrome 1 63
Path 2
Term Annotations click to browse term
  disease 14089
    Nutritional and Metabolic Diseases 6671
      disease of metabolism 6671
        acquired metabolic disease 2054
          mineral metabolism disease 858
            calcium metabolism disease 557
              calcinosis 492
                basal ganglia calcification 276
                  Aicardi-Goutieres syndrome 198
                    Aicardi-Goutieres Syndrome 1 63
paths to the root