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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
For additional species annotation, visit the Alliance of Genome Resources.



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Aicardi-Goutieres syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
DNA:mutations:exons:
CTD
ClinVar
RGD
PMID:9889202 PMID:19060901 PMID:20301648 PMID:22129056 PMID:23001123 More... RGD:11069491 NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome
ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
ClinVar PMID:16845398 PMID:23602593 PMID:24033266 PMID:24183309 PMID:25582466 More... NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477
JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24686847 NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458
JBrowse link
G Rnaseh2a ribonuclease H2, subunit A ISO
ISS
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846
ClinVar
MouseDO
PMID:17846997 PMID:20131292 PMID:21454563 PMID:23592335 PMID:24033266 More... NCBI chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041
JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 PMID:18754903 More... NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO
ISS
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846
ClinVar
MouseDO
PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr 1:202,894,504...202,895,675
Ensembl chr 1:202,894,643...202,897,516
JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
CTD
ClinVar
PMID:19525956 PMID:20653736 PMID:21204240 PMID:22461318 PMID:22691373 More... NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:28492532 NCBI chr 3:145,742,381...145,758,847
Ensembl chr 3:145,743,619...145,758,741
JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by OMIM:225750
ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
PMID:16845398 PMID:23602593 PMID:24033266 PMID:24183309 PMID:25582466 More... NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796
JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144
JBrowse link
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 chr 8:108,741,899...108,743,425
Ensembl chr 8:108,693,060...108,744,555
JBrowse link
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126
JBrowse link
G Apeh acylaminoacyl-peptide hydrolase ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,773,791...108,782,903
Ensembl chr 8:108,773,794...108,782,933
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 chr 8:109,296,738...109,355,909
Ensembl chr 8:109,296,738...109,355,852
JBrowse link
G Arih2os ARIH2 opposite strand lncRNA ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1, autosomal dominant
ClinVar PMID:1821204 PMID:3174024 PMID:16845398 PMID:16960810 PMID:17293595 More... NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477
JBrowse link
G Bsn bassoon (presynaptic cytomatrix protein) ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,784,849...108,875,819
Ensembl chr 8:108,788,542...108,875,819
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 chr 8:108,626,821...108,641,169
Ensembl chr 8:108,626,821...108,641,169
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 chr 8:109,146,650...109,161,749
Ensembl chr 8:109,146,359...109,165,216
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 chr 8:108,682,594...108,690,358
Ensembl chr 8:108,682,613...108,690,367
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 chr 8:109,530,597...109,558,360
Ensembl chr 8:109,530,641...109,558,354
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 chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
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 chr 8:109,264,100...109,268,560
Ensembl chr 8:109,265,676...109,268,568
JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,737,429...108,767,286
Ensembl chr 8:108,693,060...108,767,286
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 chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
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 chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Hyal1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,250,654...108,254,526
Ensembl chr 8:108,250,667...108,260,210
JBrowse link
G Hyal3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,254,385...108,260,020
Ensembl chr 8:108,250,667...108,260,647
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 chr 8:108,260,969...108,266,191
Ensembl chr 8:108,260,969...108,266,194
JBrowse link
G Iho1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,091,134...109,126,386
Ensembl chr 8:109,092,758...109,125,434
JBrowse link
G Impdh2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,256,705...109,261,365
Ensembl chr 8:109,256,728...109,261,359
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 chr 8:108,674,263...108,675,953
Ensembl chr 8:108,674,263...108,675,953
JBrowse link
G Ip6k1 inositol hexakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,693,068...108,737,278 JBrowse link
G Ip6k2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,483,843...109,510,172
Ensembl chr 8:109,484,310...109,510,166
JBrowse link
G Klhdc8b kelch domain containing 8B ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,141,594...109,146,584
Ensembl chr 8:109,141,594...109,146,918
JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
JBrowse link
G LOC498675 hypothetical LOC498675 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,080,032...109,084,650
Ensembl chr 8:109,036,030...109,097,895
JBrowse link
G LOC680045 hypothetical protein LOC680045 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,131,138...109,140,784
Ensembl chr 8:109,124,762...109,140,791
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 chr 8:108,265,855...108,270,656
Ensembl chr 8:108,266,345...108,279,115
JBrowse link
G Mir191 microRNA 191 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,264,098...109,264,188 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 chr 8:108,574,272...108,593,163
Ensembl chr 8:108,574,388...108,593,156
JBrowse link
G Mst1 macrophage stimulating 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,767,886...108,773,425
Ensembl chr 8:108,768,839...108,773,416
JBrowse link
G Mst1r macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,596,100...108,611,389
Ensembl chr 8:108,597,299...108,612,455
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 chr 8:108,254,314...108,257,564
Ensembl chr 8:108,253,302...108,257,563
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 chr 8:109,511,484...109,522,625
Ensembl chr 8:109,511,658...109,522,246
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 chr 8:109,261,362...109,263,194
Ensembl chr 8:109,261,363...109,263,194
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 chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067
JBrowse link
G P4htm prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,274,629...109,292,802
Ensembl chr 8:109,274,626...109,292,473
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 chr 8:109,643,558...109,687,006
Ensembl chr 8:109,643,937...109,685,634
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 chr 8:109,393,189...109,458,832
Ensembl chr 8:109,395,833...109,455,628
JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739
JBrowse link
G Qrich1 glutamine-rich 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,216,900...109,256,472
Ensembl chr 8:109,217,376...109,261,359
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 chr 8:108,420,220...108,449,481
Ensembl chr 8:108,420,222...108,449,430
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 chr 8:108,452,687...108,552,783
Ensembl chr 8:108,452,687...108,552,771
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 chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
JBrowse link
G Rnf123 ring finger protein 123 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,740,176...108,768,177
Ensembl chr 8:108,739,620...108,767,675
JBrowse link
G Sema3b semaphorin 3B ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,271,663...108,280,326
Ensembl chr 8:108,271,666...108,282,919
JBrowse link
G Sema3f semaphorin 3F ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,357,629...108,387,083
Ensembl chr 8:108,357,629...108,387,083
JBrowse link
G Shisa5 shisa family member 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,691,476...109,706,409
Ensembl chr 8:109,691,522...109,706,408
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 chr 8:109,365,056...109,386,512
Ensembl chr 8:109,365,002...109,386,512
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 chr 8:109,558,968...109,569,778
Ensembl chr 8:109,559,642...109,569,778
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 chr 8:108,323,889...108,339,959
Ensembl chr 8:108,323,894...108,339,988
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 chr 8:108,988,588...108,992,324
Ensembl chr 8:108,988,590...108,991,564
JBrowse link
G Tmem89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,571,377...109,572,271
Ensembl chr 8:109,571,377...109,572,271
JBrowse link
G Traip TRAF-interacting protein ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,641,860...108,661,640
Ensembl chr 8:108,641,852...108,661,638
JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1, autosomal dominant
ClinVar
OMIM
PMID:1821204 PMID:3174024 PMID:16845398 PMID:16960810 PMID:17293595 More... NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796
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 chr 8:108,665,289...108,674,099
Ensembl chr 8:108,665,292...108,674,099
JBrowse link
G Ucn2 urocortin 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,637,624...109,639,173
Ensembl chr 8:109,638,285...109,639,172
JBrowse link
G Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,589,735...109,601,481
Ensembl chr 8:109,589,706...109,601,480
JBrowse link
G Usp19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,190,727...109,201,761
Ensembl chr 8:109,190,724...109,201,741
JBrowse link
G Usp4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,035,402...109,080,427
Ensembl chr 8:109,036,099...109,080,427
JBrowse link
G Wdr6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,268,079...109,274,504
Ensembl chr 8:109,268,079...109,274,499
JBrowse link
Aicardi-Goutieres Syndrome 2 term browser
Symbol Object Name 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
OMIM
PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
JBrowse link
Aicardi-Goutieres Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 3 ClinVar NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458
JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO ClinVar Annotator: match by OMIM:610329
ClinVar Annotator: match by term: Aicardi Goutieres syndrome 3
OMIM
ClinVar
PMID:9536098 PMID:16845400 PMID:17576681 PMID:17846997 PMID:20131292 More... NCBI chr 1:202,894,504...202,895,675
Ensembl chr 1:202,894,643...202,897,516
JBrowse link
Aicardi-Goutieres Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnaseh2a ribonuclease H2, subunit A ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 4
ClinVar Annotator: match by OMIM:610333
OMIM
ClinVar
PMID:9536098 PMID:15870678 PMID:16199547 PMID:16845400 PMID:17576681 More... NCBI chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041
JBrowse link
Aicardi-Goutieres Syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome 5
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:612952
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
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 chr 3:145,742,381...145,758,847
Ensembl chr 3:145,743,619...145,758,741
JBrowse link
Aicardi-Goutieres Syndrome 6 term browser
Symbol Object Name 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
ClinVar Annotator: match by OMIM:615010
OMIM
ClinVar
PMID:9889202 PMID:15146470 PMID:15955093 PMID:16817193 PMID:19017046 More... NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
JBrowse link
Aicardi-Goutieres Syndrome 7 term browser
Symbol Object Name 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
ClinVar Annotator: match by OMIM:615846
OMIM
ClinVar
PMID:21070929 PMID:24686847 PMID:24995871 PMID:25243380 PMID:25620204 More... NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
JBrowse link
Aicardi-Goutieres Syndrome 8 term browser
Symbol Object Name 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 chr10:30,367,841...30,385,956
Ensembl chr10:30,370,727...30,385,944
JBrowse link
Aicardi-Goutieres Syndrome 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: AICARDI-GOUTIERES SYNDROME 9 ClinVar PMID:33230297 NCBI chr 4:157,551,276...157,552,924 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    syndrome 8262
      Aicardi-Goutieres syndrome 75
        Aicardi-Goutieres Syndrome 1 64
        Aicardi-Goutieres Syndrome 2 1
        Aicardi-Goutieres Syndrome 3 2
        Aicardi-Goutieres Syndrome 4 1
        Aicardi-Goutieres Syndrome 5 2
        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 17435
    Nutritional and Metabolic Diseases 5591
      disease of metabolism 5591
        acquired metabolic disease 2907
          mineral metabolism disease 571
            calcium metabolism disease 346
              calcinosis 309
                basal ganglia calcification 90
                  Aicardi-Goutieres syndrome 75
                    Aicardi-Goutieres Syndrome 1 64
                    Aicardi-Goutieres Syndrome 2 1
                    Aicardi-Goutieres Syndrome 3 2
                    Aicardi-Goutieres Syndrome 4 1
                    Aicardi-Goutieres Syndrome 5 2
                    Aicardi-Goutieres Syndrome 6 1
                    Aicardi-Goutieres Syndrome 7 1
                    Aicardi-Goutieres Syndrome 8 1
                    Aicardi-Goutieres Syndrome 9 1
paths to the root