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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
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Accession:DOID:0050629 term browser browse the term
Definition:A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections. (DO)
Synonyms:exact_synonym: AGS;   Cree encephalitis;   encephalopathy with basal ganglia calcification;   familial infantile encephalopathy with intracranial calcification and chronic cerebrospinal fluid lymphocytosis;   pseudotoxoplasmosis syndrome
 primary_id: MESH:C535607
 xref: GARD:575;   ICD10CM:G31.8;   OMIM:PS225750;   ORDO:51

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Aicardi-Goutieres syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9889202 PMID:19060901 PMID:20301648 PMID:23001123 PMID:24033266 More... NCBI chrNW_004624885:2,783,058...2,839,688
Ensembl chrNW_004624885:2,812,448...2,839,693 		JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME ClinVar PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chrNW_004624730:2,413,474...2,431,012
Ensembl chrNW_004624730:2,413,014...2,430,827 		JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chrNW_004624732:3,187,791...3,248,795
Ensembl chrNW_004624732:3,187,791...3,250,981 		JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chrNW_004624767:20,668,759...20,675,367
Ensembl chrNW_004624767:20,666,763...20,675,164 		JBrowse link
G Rnaseh2a ribonuclease H2 subunit A ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:17846997 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 More... NCBI chrNW_004624901:411,023...419,831
Ensembl chrNW_004624901:411,078...419,831 		JBrowse link
G Rnaseh2b ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:16199547 PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 More... NCBI chrNW_004624748:3,246,707...3,339,443 JBrowse link
G Rnaseh2c ribonuclease H2 subunit C ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9536098 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 More... NCBI chrNW_004624767:20,667,401...20,668,490
Ensembl chrNW_004624767:20,667,418...20,668,490 		JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chrNW_004624842:2,591,016...2,649,746
Ensembl chrNW_004624842:2,591,148...2,647,742 		JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:28492532 NCBI chrNW_004624842:2,649,943...2,668,957
Ensembl chrNW_004624842:2,626,897...2,668,822 		JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME ClinVar PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chrNW_004624730:2,431,270...2,433,010
Ensembl chrNW_004624730:2,431,999...2,432,959 		JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624735:9,158,597...9,187,503 JBrowse link
Aicardi-Goutieres Syndrome 1 term browser
Symbol Object Name Qualifiers 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 PMID:25741914 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 susceptibility 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
Aicardi-Goutieres Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnaseh2b ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 | ClinVar Annotator: match by term: RNASEH2B-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chrNW_004624748:3,246,707...3,339,443 JBrowse link
Aicardi-Goutieres Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn3 actinin alpha 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,844,996...19,859,274
Ensembl chrNW_004624767:19,844,884...19,858,950 		JBrowse link
G Acy3 aminoacylase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,908,849...18,914,222
Ensembl chrNW_004624767:18,909,552...18,914,076 		JBrowse link
G Aip aryl hydrocarbon receptor interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,045,559...19,051,876
Ensembl chrNW_004624767:19,045,389...19,051,747 		JBrowse link
G Aldh3b1 aldehyde dehydrogenase 3 family member B1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,827,938...18,844,347
Ensembl chrNW_004624767:18,827,168...18,843,273 		JBrowse link
G Aldh3b2 aldehyde dehydrogenase 3 family member B2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,901,351...18,906,618
Ensembl chrNW_004624767:18,901,372...18,904,686 		JBrowse link
G Ankrd13d ankyrin repeat domain 13D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,195,767...19,209,535
Ensembl chrNW_004624767:19,195,828...19,209,334 		JBrowse link
G Ano1 anoctamin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,070,989...17,246,822
Ensembl chrNW_004624767:17,072,515...17,174,970 		JBrowse link
G Ap5b1 adaptor related protein complex 5 subunit beta 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,644,230...20,647,520
Ensembl chrNW_004624767:20,644,205...20,647,756 		JBrowse link
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,033,750...20,036,019
Ensembl chrNW_004624767:20,033,747...20,036,021 		JBrowse link
G Banf1 BAF nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,435,143...20,436,830
Ensembl chrNW_004624767:20,434,955...20,436,640 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,875,597...19,893,652
Ensembl chrNW_004624767:19,875,535...19,893,694 		JBrowse link
G Brms1 BRMS1 transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,036,190...20,043,871
Ensembl chrNW_004624767:20,036,256...20,043,876 		JBrowse link
G Cabp2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,016,945...19,022,328
Ensembl chrNW_004624767:19,016,945...19,022,328 		JBrowse link
G Capn1 calpain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:21,146,310...21,169,593
Ensembl chrNW_004624767:21,146,999...21,169,957 		JBrowse link
G Carns1 carnosine synthase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,097,963...19,108,078
Ensembl chrNW_004624767:19,097,944...19,107,665 		JBrowse link
G Catsper1 cation channel sperm associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,410,216...20,420,303 JBrowse link
G Ccdc85b coiled-coil domain containing 85B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,525,728...20,527,337
Ensembl chrNW_004624767:20,525,942...20,526,550 		JBrowse link
G Ccdc87 coiled-coil domain containing 87 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,815,664...19,818,796
Ensembl chrNW_004624767:19,815,707...19,818,268 		JBrowse link
G Ccnd1 cyclin D1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,470,310...17,483,082
Ensembl chrNW_004624767:17,469,622...17,483,191 		JBrowse link
G Ccs copper chaperone for superoxide dismutase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,803,945...19,815,590
Ensembl chrNW_004624767:19,803,945...19,815,964 		JBrowse link
G Cd248 CD248 molecule ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,060,917...20,063,804
Ensembl chrNW_004624767:20,060,961...20,063,594 		JBrowse link
G Cdc42ep2 CDC42 effector protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:21,057,316...21,066,220
Ensembl chrNW_004624767:21,059,993...21,066,829 		JBrowse link
G Cdk2ap2 cyclin dependent kinase 2 associated protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,028,442...19,030,580
Ensembl chrNW_004624767:19,027,912...19,030,835 		JBrowse link
G Cfl1 cofilin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,574,884...20,578,413
Ensembl chrNW_004624767:20,574,966...20,579,796 		JBrowse link
G Chka choline kinase alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,744,647...18,807,352
Ensembl chrNW_004624767:18,744,547...18,807,352 		JBrowse link
G Clcf1 cardiotrophin like cytokine factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,142,927...19,152,572
Ensembl chrNW_004624767:19,142,852...19,153,155 		JBrowse link
G Cnih2 cornichon family AMPA receptor auxiliary protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,084,526...20,090,225
Ensembl chrNW_004624767:20,084,501...20,090,209 		JBrowse link
G Coro1b coronin 1B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,080,541...19,087,128
Ensembl chrNW_004624767:19,080,451...19,090,419 		JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,109,011...18,161,378
Ensembl chrNW_004624767:18,109,008...18,161,639 		JBrowse link
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,423,007...20,424,773
Ensembl chrNW_004624767:20,422,390...20,424,690 		JBrowse link
G Ctsf cathepsin F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,839,602...19,844,870
Ensembl chrNW_004624767:19,838,956...19,844,877 		JBrowse link
G Ctsw cathepsin W ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,533,448...20,537,706
Ensembl chrNW_004624767:20,533,487...20,538,436 		JBrowse link
G CUNH11orf24 chromosome unknown C11orf24 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,601,635...18,610,913
Ensembl chrNW_004624767:18,605,295...18,611,087 		JBrowse link
G CUNH11orf68 chromosome unknown C11orf68 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,501,920...20,504,158 JBrowse link
G CUNH11orf86 chromosome unknown C11orf86 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,467,734...19,481,860
Ensembl chrNW_004624767:19,468,475...19,469,512 		JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:21,031,175...21,042,574
Ensembl chrNW_004624767:21,029,515...21,049,895 		JBrowse link
G Dpp3 dipeptidyl peptidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,894,386...19,916,996
Ensembl chrNW_004624767:19,894,279...19,916,987 		JBrowse link
G Drap1 DR1 associated protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,484,318...20,501,763
Ensembl chrNW_004624767:20,496,930...20,502,511 		JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,559,801...20,566,326
Ensembl chrNW_004624767:20,559,795...20,566,341 		JBrowse link
G Ehbp1l1 EH domain binding protein 1 like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,800,254...20,821,165 JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,436,929...20,439,796
Ensembl chrNW_004624767:20,437,053...20,439,796 		JBrowse link
G Fadd Fas associated via death domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,050,929...17,059,648
Ensembl chrNW_004624767:17,055,509...17,059,705 		JBrowse link
G Fam89b family with sequence similarity 89 member B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,822,975...20,824,952
Ensembl chrNW_004624767:20,822,860...20,824,571 		JBrowse link
G Fgf19 fibroblast growth factor 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,434,501...17,439,351
Ensembl chrNW_004624767:17,432,358...17,438,173 		JBrowse link
G Fgf3 fibroblast growth factor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,353,989...17,360,857
Ensembl chrNW_004624767:17,353,989...17,360,705 		JBrowse link
G Fgf4 fibroblast growth factor 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,381,387...17,385,698
Ensembl chrNW_004624767:17,381,791...17,383,468 		JBrowse link
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,528,750...20,533,272
Ensembl chrNW_004624767:20,528,786...20,533,266 		JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,519,054...20,525,311
Ensembl chrNW_004624767:20,519,313...20,524,554 		JBrowse link
G Frmd8 FERM domain containing 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,983,658...21,003,522
Ensembl chrNW_004624767:20,983,658...21,002,673 		JBrowse link
G Gal galanin and GMAP prepropeptide ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,195,288...18,210,634
Ensembl chrNW_004624767:18,204,508...18,210,416 		JBrowse link
G Gal3st3 galactose-3-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,342,925...20,350,892
Ensembl chrNW_004624767:20,342,446...20,350,842 		JBrowse link
G Gpr152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,075,387...19,080,184
Ensembl chrNW_004624767:19,076,064...19,077,419 		JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,212,218...19,231,218
Ensembl chrNW_004624767:19,210,965...19,231,082 		JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,038,559...18,065,745
Ensembl chrNW_004624767:18,036,650...18,065,742 		JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:25741868 PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,668,759...20,675,367
Ensembl chrNW_004624767:20,666,763...20,675,164 		JBrowse link
G Kcnk7 potassium two pore domain channel subfamily K member 7 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,796,733...20,799,915
Ensembl chrNW_004624767:20,796,809...20,799,915 		JBrowse link
G Kdm2a lysine demethylase 2A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,247,009...19,365,520
Ensembl chrNW_004624767:19,248,430...19,364,793 		JBrowse link
G Klc2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,099,758...20,109,539
Ensembl chrNW_004624767:20,099,647...20,109,593 		JBrowse link
G Kmt5b lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,654,682...18,716,087
Ensembl chrNW_004624767:18,655,193...18,716,252 		JBrowse link
G Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,589,631...19,593,302
Ensembl chrNW_004624767:19,589,631...19,593,705 		JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,438,165...18,551,362
Ensembl chrNW_004624767:18,438,274...18,551,338 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,845,949...20,861,169
Ensembl chrNW_004624767:20,845,949...20,860,673 		JBrowse link
G Lto1 LTO1 maturation factor of ABCE1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,453,894...17,460,448
Ensembl chrNW_004624767:17,454,043...17,461,430 		JBrowse link
G Map3k11 mitogen-activated protein kinase kinase kinase 11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,780,356...20,796,015
Ensembl chrNW_004624767:20,779,898...20,796,015 		JBrowse link
G Mrgprd MAS related GPR family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,999,897...18,000,932 JBrowse link
G Mrgprf MAS related GPR family member F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,971,523...17,979,956
Ensembl chrNW_004624767:17,972,076...17,980,047 		JBrowse link
G Mrpl11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,944,363...19,947,868
Ensembl chrNW_004624767:19,944,370...19,949,053 		JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,567,465...20,573,622
Ensembl chrNW_004624767:20,567,465...20,572,866 		JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,822,763...18,826,907
Ensembl chrNW_004624767:18,822,526...18,827,057 		JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,934,063...18,938,652
Ensembl chrNW_004624767:18,929,879...18,939,242 		JBrowse link
G Npas4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,953,746...19,959,472
Ensembl chrNW_004624767:19,954,323...19,959,360 		JBrowse link
G Nudt8 nudix hydrolase 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,924,318...18,926,309 JBrowse link
G Ovol1 ovo like transcriptional repressor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,624,325...20,636,015
Ensembl chrNW_004624767:20,622,733...20,636,067 		JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,123,845...20,325,191
Ensembl chrNW_004624767:20,123,725...20,324,967 		JBrowse link
G Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,481,158...19,601,036
Ensembl chrNW_004624767:19,480,522...19,614,051 		JBrowse link
G Pcnx3 pecanex 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,758,355...20,780,166
Ensembl chrNW_004624767:20,758,355...20,779,441 		JBrowse link
G Peli3 pellino E3 ubiquitin protein ligase family member 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,920,149...19,938,892
Ensembl chrNW_004624767:19,920,687...19,929,638 		JBrowse link
G Pitpnm1 phosphatidylinositol transfer protein membrane associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,031,689...19,045,062
Ensembl chrNW_004624767:19,031,625...19,045,166 		JBrowse link
G Pola2 DNA polymerase alpha 2, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:21,078,881...21,101,464
Ensembl chrNW_004624767:21,078,742...21,101,367 		JBrowse link
G Pold4 DNA polymerase delta 4, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,160,494...19,162,241
Ensembl chrNW_004624767:19,160,407...19,163,247 		JBrowse link
G Ppp1ca protein phosphatase 1 catalytic subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,120,683...19,123,935
Ensembl chrNW_004624767:19,119,883...19,123,934 		JBrowse link
G Ppp6r3 protein phosphatase 6 regulatory subunit 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,269,737...18,431,406
Ensembl chrNW_004624767:18,271,877...18,369,613 		JBrowse link
G Ptprcap protein tyrosine phosphatase receptor type C associated protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,087,197...19,089,999 JBrowse link
G Rab1b RAB1B, member RAS oncogene family ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,091,120...20,098,855
Ensembl chrNW_004624767:20,090,441...20,098,913 		JBrowse link
G Rad9a RAD9 checkpoint clamp component A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,123,710...19,180,505
Ensembl chrNW_004624767:19,124,517...19,176,231 		JBrowse link
G Rce1 Ras converting CAAX endopeptidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,602,603...19,605,671
Ensembl chrNW_004624767:19,602,603...19,605,668 		JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,732,813...20,742,016
Ensembl chrNW_004624767:20,732,938...20,741,272 		JBrowse link
G Rhod ras homolog family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,397,703...19,406,809
Ensembl chrNW_004624767:19,394,141...19,406,728 		JBrowse link
G Rin1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,044,056...20,050,868
Ensembl chrNW_004624767:20,044,820...20,051,764 		JBrowse link
G Rnaseh2c ribonuclease H2 subunit C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar Annotator: match by term: RNASEH2C-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chrNW_004624767:20,667,401...20,668,490
Ensembl chrNW_004624767:20,667,418...20,668,490 		JBrowse link
G Rps6kb2 ribosomal protein S6 kinase B2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,090,090...19,097,123
Ensembl chrNW_004624767:19,090,067...19,096,689 		JBrowse link
G Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,456,951...20,466,994
Ensembl chrNW_004624767:20,456,890...20,467,641 		JBrowse link
G Scyl1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,861,037...20,872,127
Ensembl chrNW_004624767:20,861,039...20,872,090 		JBrowse link
G Sf3b2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,326,499...20,340,204
Ensembl chrNW_004624767:20,326,499...20,340,164 		JBrowse link
G Sipa1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,745,125...20,757,243
Ensembl chrNW_004624767:20,745,168...20,757,219 		JBrowse link
G Slc25a45 solute carrier family 25 member 45 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:21,008,292...21,015,084
Ensembl chrNW_004624767:21,008,344...21,014,732 		JBrowse link
G Slc29a2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,011,147...20,020,895
Ensembl chrNW_004624767:20,011,153...20,020,871 		JBrowse link
G Sptbn2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,694,471...19,734,653
Ensembl chrNW_004624767:19,694,241...19,734,650 		JBrowse link
G Ssh3 slingshot protein phosphatase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,186,390...19,194,624
Ensembl chrNW_004624767:19,185,251...19,194,680 		JBrowse link
G Syt12 synaptotagmin 12 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,412,314...19,436,939
Ensembl chrNW_004624767:19,412,359...19,436,931 		JBrowse link
G Tbc1d10c TBC1 domain family member 10C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,112,416...19,119,929
Ensembl chrNW_004624767:19,113,470...19,119,602 		JBrowse link
G Tbx10 T-box transcription factor 10 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,918,933...18,923,369
Ensembl chrNW_004624767:18,919,516...18,924,547 		JBrowse link
G Tcirg1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,809,626...18,820,360
Ensembl chrNW_004624767:18,809,689...18,820,390 		JBrowse link
G Tesmin testis expressed metallothionein like protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,162,971...18,201,190
Ensembl chrNW_004624767:18,162,578...18,201,761 		JBrowse link
G Tigd3 tigger transposable element derived 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:21,026,778...21,029,599
Ensembl chrNW_004624767:21,026,887...21,029,559 		JBrowse link
G Tmem134 transmembrane protein 134 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,059,642...19,064,267
Ensembl chrNW_004624767:19,059,726...19,064,031 		JBrowse link
G Tmem151a transmembrane protein 151A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,072,609...20,077,454
Ensembl chrNW_004624767:20,072,493...20,078,233 		JBrowse link
G Tpcn2 two pore segment channel 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,877,791...17,944,190
Ensembl chrNW_004624767:17,918,080...17,944,653 		JBrowse link
G Tsga10ip testis specific 10 interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,469,228...20,478,733 JBrowse link
G Unc93b1 unc-93 homolog B1, TLR signaling regulator ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,859,990...18,869,083
Ensembl chrNW_004624767:18,860,017...18,868,581 		JBrowse link
G Yif1a Yip1 interacting factor homolog A, membrane trafficking protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,079,394...20,084,170
Ensembl chrNW_004624767:20,079,233...20,084,170 		JBrowse link
G Zdhhc24 zinc finger DHHC-type containing 24 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,846,848...19,867,591
Ensembl chrNW_004624767:19,859,483...19,869,380 		JBrowse link
G Znrd2 zinc ribbon domain containing 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,825,259...20,826,782
Ensembl chrNW_004624767:20,825,259...20,826,669 		JBrowse link
Aicardi-Goutieres Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnase2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004624901:464,211...466,979
Ensembl chrNW_004624901:464,223...467,161 		JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004624901:474,836...479,674
Ensembl chrNW_004624901:475,073...479,292 		JBrowse link
G Klf1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004624901:467,937...471,917
Ensembl chrNW_004624901:468,662...471,500 		JBrowse link
G Mast1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004624901:429,191...463,534
Ensembl chrNW_004624901:432,836...467,161 		JBrowse link
G Rnaseh2a ribonuclease H2 subunit A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition OMIM
ClinVar		 PMID:9536098 PMID:15870678 PMID:16199547 PMID:16845400 PMID:17576681 More... NCBI chrNW_004624901:411,023...419,831
Ensembl chrNW_004624901:411,078...419,831 		JBrowse link
G Rtbdn retbindin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004624901:421,624...426,655 JBrowse link
G Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004624901:478,860...491,577 JBrowse link
Aicardi-Goutieres Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blcap BLCAP apoptosis inducing factor ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004624842:2,118,996...2,127,981
Ensembl chrNW_004624842:2,118,955...2,129,291 		JBrowse link
G Ctnnbl1 catenin beta like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004624842:1,764,763...1,949,691
Ensembl chrNW_004624842:1,764,067...1,949,787 		JBrowse link
G Ghrh growth hormone releasing hormone ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004625146:5,484...8,763
Ensembl chrNW_004625146:6,381...13,318 		JBrowse link
G Manbal mannosidase beta like ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004624842:2,285,820...2,312,335
Ensembl chrNW_004624842:2,285,706...2,312,540 		JBrowse link
G Nnat neuronatin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004624842:2,122,968...2,125,490 JBrowse link
G Rbl1 RB transcriptional corepressor like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004624842:2,495,015...2,565,220
Ensembl chrNW_004624842:2,494,911...2,563,421 		JBrowse link
G Rpn2 ribophorin II ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004624842:2,349,837...2,419,262
Ensembl chrNW_004624842:2,349,707...2,419,462 		JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chrNW_004624842:2,591,016...2,649,746
Ensembl chrNW_004624842:2,591,148...2,647,742 		JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004624842:2,212,561...2,260,514
Ensembl chrNW_004624842:2,211,020...2,230,132 		JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624842:2,649,943...2,668,957
Ensembl chrNW_004624842:2,626,897...2,668,822 		JBrowse link
Aicardi-Goutieres Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 OMIM
ClinVar		 PMID:9536098 PMID:9889202 PMID:15146470 PMID:15489923 PMID:15955093 More... NCBI chrNW_004624885:2,783,058...2,839,688
Ensembl chrNW_004624885:2,812,448...2,839,693 		JBrowse link
Aicardi-Goutieres Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 | ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7 OMIM
ClinVar		 PMID:16199547 PMID:21070929 PMID:24686847 PMID:24995871 PMID:25243380 More... NCBI chrNW_004624732:3,187,791...3,248,795
Ensembl chrNW_004624732:3,187,791...3,250,981 		JBrowse link
Aicardi-Goutieres Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lsm11 LSM11, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 OMIM
ClinVar		 PMID:33230297 NCBI chrNW_004624733:31,720,054...31,730,809
Ensembl chrNW_004624733:31,723,022...31,730,724 		JBrowse link
Aicardi-Goutieres Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH12orf57 chromosome unknown C12orf57 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 ClinVar PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297 NCBI chrNW_004624860:3,578,147...3,580,059
Ensembl chrNW_004624860:3,578,336...3,580,059 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15960
    disease of anatomical entity 13725
      nervous system disease 12005
        Nervous System Malformations 2230
          Aicardi-Goutieres syndrome 198
            Aicardi-Goutieres Syndrome 1 63
            Aicardi-Goutieres Syndrome 2 1
            Aicardi-Goutieres Syndrome 3 113
            Aicardi-Goutieres Syndrome 4 7
            Aicardi-Goutieres Syndrome 5 10
            Aicardi-Goutieres Syndrome 6 1
            Aicardi-Goutieres Syndrome 7 1
            Aicardi-Goutieres Syndrome 8 1
            Aicardi-Goutieres Syndrome 9 1
Path 2
Term Annotations click to browse term
  disease 15960
    Nutritional and Metabolic Diseases 6664
      disease of metabolism 6664
        acquired metabolic disease 2106
          mineral metabolism disease 918
            calcium metabolism disease 556
              calcinosis 491
                basal ganglia calcification 275
                  Aicardi-Goutieres syndrome 198
                    Aicardi-Goutieres Syndrome 1 63
                    Aicardi-Goutieres Syndrome 2 1
                    Aicardi-Goutieres Syndrome 3 113
                    Aicardi-Goutieres Syndrome 4 7
                    Aicardi-Goutieres Syndrome 5 10
                    Aicardi-Goutieres Syndrome 6 1
                    Aicardi-Goutieres Syndrome 7 1
                    Aicardi-Goutieres Syndrome 8 1
                    Aicardi-Goutieres Syndrome 9 1
paths to the root