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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


show annotations for term's descendants           Sort by:
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 ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9889202 PMID:19060901 PMID:20301648 PMID:23001123 PMID:24033266 More... NCBI chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999 		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 chr20:40,626,828...40,642,689
Ensembl chr20:40,626,831...40,642,594 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chr36:7,668,925...7,727,040
Ensembl chr36:7,649,727...8,261,048 		JBrowse link
G KAT5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chr18:51,499,615...51,507,434
Ensembl chr18:51,499,938...51,576,699 		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 chr20:49,345,258...49,352,944
Ensembl chr20:49,345,266...49,355,167 		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 chr22:944,399...1,010,479
Ensembl chr22:931,751...991,223 		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 chr18:51,498,282...51,501,844
Ensembl chr18:51,498,308...51,499,541 		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 chr24:25,623,997...25,676,336
Ensembl chr24:25,626,134...25,680,902 		JBrowse link
G TLDC2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:28492532 NCBI chr24:25,602,002...25,623,273
Ensembl chr24:25,610,851...25,623,803 		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 chr20:40,624,845...40,626,840
Ensembl chr20:40,624,891...40,626,906 		JBrowse link
G USP18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr27:45,739,845...45,814,668 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 chr20:39,554,028...39,557,129
Ensembl chr20:39,554,629...39,556,155 		JBrowse link
G AMT aminomethyltransferase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,815,449...39,820,907
Ensembl chr20:39,815,814...39,820,506 		JBrowse link
G APEH acylaminoacyl-peptide hydrolase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,587,316...39,596,324
Ensembl chr20:39,587,279...39,596,228 		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 chr20:40,178,560...40,230,870
Ensembl chr20:40,179,168...40,230,880 		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 chr20:40,626,828...40,642,689
Ensembl chr20:40,626,831...40,642,594 		JBrowse link
G BSN bassoon presynaptic cytomatrix protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,601,803...39,696,831
Ensembl chr20:39,605,117...39,642,298 		JBrowse link
G C20H3orf62 chromosome 20 C3orf62 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,953,285...39,959,112
Ensembl chr20:39,953,764...39,956,754 		JBrowse link
G C20H3orf84 chromosome 20 C3orf84 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:40,012,730...40,021,983
Ensembl chr20:40,012,854...40,021,981 		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 chr20:39,413,050...39,428,973
Ensembl chr20:39,424,519...39,427,612 		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 chr20:40,031,573...40,036,895
Ensembl chr20:40,033,839...40,035,416 		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 chr20:39,473,450...39,482,158
Ensembl chr20:39,473,848...39,482,144 		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 chr20:40,457,430...40,495,128
Ensembl chr20:40,457,657...40,483,881 		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 chr20:40,519,121...40,550,305
Ensembl chr20:40,519,378...40,552,935 		JBrowse link
G DAG1 dystroglycan 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,707,672...39,779,094
Ensembl chr20:39,708,053...39,778,550 		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 chr20:40,145,239...40,148,731
Ensembl chr20:40,145,700...40,148,729
Ensembl chr20:40,145,700...40,148,729 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,550,799...39,553,045
Ensembl chr20:39,550,799...39,553,045 		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 chr20:39,075,085...39,094,697
Ensembl chr20:39,075,085...39,094,697 		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 chr20:39,128,244...39,133,280
Ensembl chr20:39,128,244...39,133,280 		JBrowse link
G GPX1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,889,165...39,890,253
Ensembl chr20:39,889,174...39,890,260 		JBrowse link
G HYAL1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,035,924...39,040,443
Ensembl chr20:39,038,514...39,040,368 		JBrowse link
G HYAL3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,041,940...39,047,388
Ensembl chr20:39,042,070...39,047,365 		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 chr20:39,047,573...39,053,528
Ensembl chr20:39,048,259...39,053,341 		JBrowse link
G IHO1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,964,629...40,006,726
Ensembl chr20:39,965,480...39,990,756 		JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:40,136,106...40,140,983
Ensembl chr20:40,136,154...40,140,972 		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 chr20:39,469,103...39,477,169
Ensembl chr20:39,469,146...39,470,857 		JBrowse link
G IP6K1 inositol hexakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,484,487...39,550,199
Ensembl chr20:39,484,531...39,547,412 		JBrowse link
G IP6K2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:40,403,260...40,437,863
Ensembl chr20:40,427,083...40,437,804 		JBrowse link
G KLHDC8B kelch domain containing 8B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:40,012,797...40,027,888
Ensembl chr20:40,023,411...40,026,552 		JBrowse link
G LAMB2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:40,036,967...40,062,628
Ensembl chr20:40,050,157...40,062,523 		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 chr20:39,053,152...39,058,467
Ensembl chr20:39,053,950...39,054,717 		JBrowse link
G MIR191 microRNA mir-191 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:40,144,135...40,144,198
Ensembl chr20:40,144,121...40,144,210 		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 chr20:39,368,757...39,383,175
Ensembl chr20:39,378,694...39,383,175 		JBrowse link
G MST1 macrophage stimulating 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,582,237...39,586,958
Ensembl chr20:39,582,282...39,586,908 		JBrowse link
G MST1R macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,386,970...39,400,780
Ensembl chr20:39,387,322...39,400,588 		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 chr20:39,042,078...39,044,894 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 chr20:40,443,245...40,449,859
Ensembl chr20:40,442,386...40,449,542 		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 chr20:40,141,550...40,143,207
Ensembl chr20:40,141,552...40,172,553 		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 chr20:39,810,692...39,814,354
Ensembl chr20:39,810,692...39,814,354 		JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:40,157,952...40,172,624
Ensembl chr20:40,157,952...40,172,599 		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 chr20:40,556,548...40,587,036
Ensembl chr20:40,556,790...40,585,652 		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 chr20:40,277,655...40,388,156
Ensembl chr20:40,277,906...40,384,633 		JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:40,077,856...40,085,100
Ensembl chr20:40,078,163...40,085,099 		JBrowse link
G QRICH1 glutamine rich 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:40,086,141...40,135,810
Ensembl chr20:40,097,149...40,135,140 		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 chr20:39,198,706...39,227,856
Ensembl chr20:39,199,154...39,227,769 		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 chr20:39,235,301...39,359,784
Ensembl chr20:39,235,421...39,334,107 		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 chr20:39,824,552...39,888,089
Ensembl chr20:39,824,575...39,887,215 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:25741868 PMID:25741914 NCBI chr22:944,399...1,010,479
Ensembl chr22:931,751...991,223 		JBrowse link
G RNF123 ring finger protein 123 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,553,016...39,582,127
Ensembl chr20:39,553,059...39,579,844 		JBrowse link
G SEMA3B semaphorin 3B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,058,708...39,067,277
Ensembl chr20:39,059,245...39,065,661 		JBrowse link
G SEMA3F semaphorin 3F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,135,580...39,165,381
Ensembl chr20:39,136,523...39,161,325 		JBrowse link
G SHISA5 shisa family member 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:40,604,183...40,624,607
Ensembl chr20:40,601,626...40,623,601 		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 chr20:40,244,222...40,271,100
Ensembl chr20:40,244,229...40,270,433 		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 chr20:39,108,387...39,122,526
Ensembl chr20:39,109,211...39,114,849 		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 chr20:39,820,845...39,824,526
Ensembl chr20:39,822,211...39,824,200 		JBrowse link
G TMEM89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:40,496,844...40,497,742
Ensembl chr20:40,496,844...40,497,742 		JBrowse link
G TRAIP TRAF interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,430,109...39,454,437
Ensembl chr20:39,430,489...39,453,933 		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 chr20:40,624,845...40,626,840
Ensembl chr20:40,624,891...40,626,906 		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 chr20:39,459,981...39,468,919
Ensembl chr20:39,460,216...39,468,917 		JBrowse link
G UCN2 urocortin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:40,551,060...40,552,920 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 chr20:40,507,767...40,515,854
Ensembl chr20:40,506,907...40,520,110 		JBrowse link
G USP19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:40,062,802...40,074,221
Ensembl chr20:40,064,599...40,074,082 		JBrowse link
G USP4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:39,899,880...39,952,959
Ensembl chr20:39,899,897...39,952,420 		JBrowse link
G WDR6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr20:40,148,262...40,157,770
Ensembl chr20:40,148,928...40,157,650 		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 Annotator: match by term: RNASEH2B-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chr22:944,399...1,010,479
Ensembl chr22:931,751...991,223 		JBrowse link
Aicardi-Goutieres Syndrome 3 term browser
Symbol Object Name 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 chr18:50,787,353...50,801,036
Ensembl chr18:50,787,353...50,801,197 		JBrowse link
G ACY3 aminoacylase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,860,273...49,865,202 JBrowse link
G AIP aryl hydrocarbon receptor interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,986,582...49,992,756
Ensembl chr18:49,986,587...49,992,676 		JBrowse link
G ALDH3B1 aldehyde dehydrogenase 3 family member B1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,801,893...49,819,727
Ensembl chr18:49,802,121...49,819,713 		JBrowse link
G ANKRD13D ankyrin repeat domain 13D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,135,779...50,145,721
Ensembl chr18:50,135,792...50,145,846 		JBrowse link
G ANO1 anoctamin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:48,108,310...48,249,021
Ensembl chr18:48,108,806...48,189,471 		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 chr18:51,472,966...51,476,231
Ensembl chr18:51,462,758...51,476,114 		JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,964,645...50,966,924
Ensembl chr18:50,964,131...50,966,264 		JBrowse link
G BANF1 BAF nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,269,817...51,271,484
Ensembl chr18:51,269,815...51,271,690 		JBrowse link
G BBS1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,816,126...50,835,354 JBrowse link
G BRMS1 BRMS1 transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,967,175...50,974,816
Ensembl chr18:50,967,270...50,974,321 		JBrowse link
G C18H11orf24 chromosome 18 C11orf24 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,580,495...49,590,962
Ensembl chr18:49,584,563...49,591,683 		JBrowse link
G C18H11orf68 chromosome 18 C11orf68 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,353,212...51,355,490 JBrowse link
G C18H11orf86 chromosome 18 C11orf86 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,394,024...50,395,968
Ensembl chr18:50,394,805...50,395,812 		JBrowse link
G CABP2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,960,656...49,963,889
Ensembl chr18:49,959,544...49,964,268 		JBrowse link
G CABP4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,014,698...50,017,854
Ensembl chr18:50,014,698...50,017,854 		JBrowse link
G CAPN1 calpain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,983,266...52,010,831
Ensembl chr18:51,983,824...52,010,757 		JBrowse link
G CARNS1 carnosine synthase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,041,545...50,050,438
Ensembl chr18:50,042,465...50,050,949 		JBrowse link
G CATSPER1 cation channel sperm associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,249,897...51,260,211
Ensembl chr18:51,250,039...51,260,168 		JBrowse link
G CCDC85B coiled-coil domain containing 85B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,375,015...51,376,044
Ensembl chr18:51,375,261...51,375,866 		JBrowse link
G CCDC87 coiled-coil domain containing 87 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,759,378...50,762,205
Ensembl chr18:50,759,436...50,762,057 		JBrowse link
G CCND1 cyclin D1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:48,501,905...48,509,684
Ensembl chr18:48,501,899...48,516,005 		JBrowse link
G CCS copper chaperone for superoxide dismutase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,748,039...50,759,270
Ensembl chr18:50,748,041...50,759,191 		JBrowse link
G CD248 CD248 molecule ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,991,552...50,994,185
Ensembl chr18:50,991,585...50,994,179 		JBrowse link
G CDC42EP2 CDC42 effector protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,854,975...51,863,594
Ensembl chr18:51,857,367...51,858,011 		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 chr18:49,969,630...49,971,781
Ensembl chr18:49,970,160...49,971,457 		JBrowse link
G CFL1 cofilin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr18:51,404,649...51,408,240
Ensembl chr18:51,401,659...51,408,212 		JBrowse link
G CHKA choline kinase alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,717,512...49,784,653
Ensembl chr18:49,745,437...49,781,882 		JBrowse link
G CLCF1 cardiotrophin like cytokine factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,084,120...50,093,825
Ensembl chr18:50,083,915...50,102,651 		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 chr18:51,020,263...51,026,280
Ensembl chr18:51,021,116...51,026,273 		JBrowse link
G CORO1B coronin 1B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,027,274...50,031,601
Ensembl chr18:50,027,275...50,050,907 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,136,691...49,190,117
Ensembl chr18:49,136,691...49,190,117 		JBrowse link
G CST6 cystatin E/M ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,263,161...51,264,816
Ensembl chr18:51,263,178...51,264,780 		JBrowse link
G CTSF cathepsin F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,782,326...50,787,213
Ensembl chr18:50,782,404...50,786,996 		JBrowse link
G CTSW cathepsin W ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,381,999...51,386,277
Ensembl chr18:51,382,122...51,386,261 		JBrowse link
G DPF2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,833,085...51,847,213
Ensembl chr18:51,833,070...51,847,087 		JBrowse link
G DPP3 dipeptidyl peptidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,835,739...50,868,777
Ensembl chr18:50,835,735...50,868,682 		JBrowse link
G DRAP1 DR1 associated protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,350,625...51,352,742
Ensembl chr18:51,350,716...51,352,977 		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 chr18:51,389,797...51,396,109
Ensembl chr18:51,389,824...51,396,107 		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 chr18:51,613,465...51,630,589
Ensembl chr18:51,614,425...51,630,315 		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 chr18:51,271,850...51,276,215
Ensembl chr18:51,272,855...51,274,487 		JBrowse link
G FADD Fas associated via death domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:48,087,447...48,094,497 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 chr18:51,632,509...51,634,218
Ensembl chr18:51,632,781...51,634,034 		JBrowse link
G FGF19 fibroblast growth factor 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:48,464,931...48,469,967
Ensembl chr18:48,464,928...48,469,782 		JBrowse link
G FGF3 fibroblast growth factor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:48,382,819...48,388,453
Ensembl chr18:48,383,222...48,389,009 		JBrowse link
G FGF4 fibroblast growth factor 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:48,413,480...48,417,494
Ensembl chr18:48,413,187...48,416,977 		JBrowse link
G FIBP FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,377,757...51,381,872
Ensembl chr18:51,377,797...51,381,808 		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 chr18:51,366,719...51,374,411
Ensembl chr18:51,368,352...51,373,748 		JBrowse link
G FRMD8 FERM domain containing 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,782,664...51,807,343
Ensembl chr18:51,784,413...51,806,874 		JBrowse link
G GAL galanin and GMAP prepropeptide ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,240,437...49,246,543
Ensembl chr18:49,240,437...49,246,950 		JBrowse link
G GAL3ST3 galactose-3-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,215,280...51,222,962
Ensembl chr18:51,219,156...51,222,418 		JBrowse link
G GPR152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,019,898...50,022,587
Ensembl chr18:50,020,286...50,021,695 		JBrowse link
G GRK2 G protein-coupled receptor kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,148,566...50,167,422
Ensembl chr18:50,148,598...50,167,428 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182 		JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,063,748...49,090,625
Ensembl chr18:49,064,609...49,091,453 		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 chr18:51,499,615...51,507,434
Ensembl chr18:51,499,938...51,576,699 		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 chr18:51,609,373...51,613,802
Ensembl chr18:51,610,746...51,613,675 		JBrowse link
G KDM2A lysine demethylase 2A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,178,511...50,294,097
Ensembl chr18:50,181,024...50,291,127 		JBrowse link
G KLC2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,035,013...51,045,629
Ensembl chr18:51,035,705...51,045,595 		JBrowse link
G KMT5B lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,655,783...49,691,899
Ensembl chr18:49,637,610...49,827,034 		JBrowse link
G LOC611806 aldehyde dehydrogenase family 3 member B2-like ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,856,341...49,860,263
Ensembl chr18:49,853,737...49,859,927 		JBrowse link
G LOC611847 DNA polymerase delta 4, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,101,211...50,103,045 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 chr18:50,495,971...50,499,062
Ensembl chr18:50,495,971...50,499,068 		JBrowse link
G LRP5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,439,494...49,555,375
Ensembl chr18:49,439,483...49,516,396 		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 chr18:51,653,783...51,667,793
Ensembl chr18:51,659,098...51,667,433 		JBrowse link
G LTO1 LTO1 maturation factor of ABCE1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:48,482,212...48,490,678
Ensembl chr18:48,481,955...48,490,691 		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 chr18:51,593,641...51,609,245
Ensembl chr18:51,594,274...51,608,696 		JBrowse link
G MRGPRD MAS related GPR family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,028,149...49,029,198
Ensembl chr18:49,028,149...49,029,198 		JBrowse link
G MRGPRF MAS related GPR family member F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,006,789...49,015,080
Ensembl chr18:49,006,888...49,015,080 		JBrowse link
G MRPL11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,890,411...50,893,891
Ensembl chr18:50,890,413...50,893,767 		JBrowse link
G MRPL21 mitochondrial ribosomal protein L21 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,090,521...49,104,052
Ensembl chr18:49,090,689...49,104,051 		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 chr18:51,396,980...51,404,563
Ensembl chr18:51,396,980...51,402,534 		JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,796,558...49,800,805
Ensembl chr18:49,796,560...49,799,979 		JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,882,844...49,888,448
Ensembl chr18:49,882,907...49,888,434 		JBrowse link
G NPAS4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,905,614...50,912,119
Ensembl chr18:50,905,611...50,911,086 		JBrowse link
G NUDT8 nudix hydrolase 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,874,630...49,876,703 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 chr18:51,454,170...51,465,189
Ensembl chr18:51,455,107...51,464,847 		JBrowse link
G PACS1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,055,487...51,196,223
Ensembl chr18:51,056,429...51,196,102 		JBrowse link
G PC pyruvate carboxylase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,406,994...50,507,677
Ensembl chr18:50,412,272...50,507,669 		JBrowse link
G PCNX3 pecanex 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr18:51,572,004...51,592,811
Ensembl chr18:51,571,452...51,592,104 		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 chr18:50,870,483...50,881,089
Ensembl chr18:50,872,426...50,879,826 		JBrowse link
G PITPNM1 phosphatidylinositol transfer protein membrane associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,972,970...49,985,995
Ensembl chr18:49,974,093...49,985,909 		JBrowse link
G POLA2 DNA polymerase alpha 2, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,875,860...51,904,492
Ensembl chr18:51,875,903...51,904,746 		JBrowse link
G PPP1CA protein phosphatase 1 catalytic subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,062,352...50,065,166
Ensembl chr18:50,062,352...50,065,166 		JBrowse link
G PPP6R3 protein phosphatase 6 regulatory subunit 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,287,571...49,432,503
Ensembl chr18:49,289,044...49,385,656 		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 chr18:50,031,740...50,034,200
Ensembl chr18:50,027,275...50,050,907 		JBrowse link
G RAB1B RAB1B, member RAS oncogene family ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,026,975...51,034,356
Ensembl chr18:51,028,013...51,034,473 		JBrowse link
G RAD9A RAD9 checkpoint clamp component A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,065,154...50,070,582
Ensembl chr18:50,065,685...50,070,710 		JBrowse link
G RBM14 RNA binding motif protein 14 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,683,227...50,728,512
Ensembl chr18:50,705,024...50,811,319 		JBrowse link
G RBM4B RNA binding motif protein 4B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,676,138...50,686,061
Ensembl chr18:50,676,162...50,685,573 		JBrowse link
G RCE1 Ras converting CAAX endopeptidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,509,426...50,512,575
Ensembl chr18:50,509,768...50,517,543 		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 chr18:51,550,003...51,558,861
Ensembl chr18:51,550,040...51,558,875 		JBrowse link
G RHOD ras homolog family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,320,428...50,330,108
Ensembl chr18:50,321,400...50,330,103 		JBrowse link
G RIN1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,975,002...50,982,052
Ensembl chr18:50,975,814...50,980,381 		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 chr18:51,498,282...51,501,844
Ensembl chr18:51,498,308...51,499,541 		JBrowse link
G RPS6KB2 ribosomal protein S6 kinase B2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,034,318...50,039,892
Ensembl chr18:50,034,364...50,040,250 		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 chr18:51,297,419...51,313,804
Ensembl chr18:51,297,419...51,313,793 		JBrowse link
G SCYL1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,667,647...51,680,904
Ensembl chr18:51,667,790...51,681,090 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,197,924...51,212,397
Ensembl chr18:51,197,939...51,212,354 		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 chr18:51,560,551...51,571,291
Ensembl chr18:51,560,551...51,568,885 		JBrowse link
G SLC25A45 solute carrier family 25 member 45 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,810,842...51,817,230
Ensembl chr18:51,811,039...51,816,094 		JBrowse link
G SLC29A2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,946,647...50,955,085
Ensembl chr18:50,946,724...50,954,413 		JBrowse link
G SNX32 sorting nexin 32 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr18:51,408,460...51,423,440
Ensembl chr18:51,408,983...51,423,410 		JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,631,053...50,670,428
Ensembl chr18:50,631,909...50,669,916 		JBrowse link
G SSH3 slingshot protein phosphatase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,126,646...50,134,799
Ensembl chr18:50,126,663...50,134,729 		JBrowse link
G SYT12 synaptotagmin 12 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,334,779...50,358,113
Ensembl chr18:50,336,042...50,351,333 		JBrowse link
G TBC1D10C TBC1 domain family member 10C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,055,376...50,062,166
Ensembl chr18:50,055,363...50,061,173 		JBrowse link
G TBX10 T-box transcription factor 10 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,870,618...49,873,452
Ensembl chr18:49,866,920...49,873,190 		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 chr18:49,784,480...49,794,361
Ensembl chr18:49,784,490...49,794,317 		JBrowse link
G TESMIN testis expressed metallothionein like protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:49,191,265...49,232,030
Ensembl chr18:49,191,211...49,230,576 		JBrowse link
G TIGD3 tigger transposable element derived 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,827,870...51,829,746
Ensembl chr18:51,828,247...51,829,665 		JBrowse link
G TMEM134 transmembrane protein 134 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,003,556...50,008,748
Ensembl chr18:50,003,109...50,008,745 		JBrowse link
G TMEM151A transmembrane protein 151A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,008,288...51,013,091
Ensembl chr18:51,009,415...51,013,181 		JBrowse link
G TOP6BL TOP6B like initiator of meiotic double strand breaks ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,512,681...50,617,666
Ensembl chr18:50,549,497...50,560,943 		JBrowse link
G TPCN2 two pore segment channel 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:48,956,833...48,984,499
Ensembl chr18:48,957,249...48,984,564 		JBrowse link
G TSGA10IP testis specific 10 interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:51,315,150...51,323,769
Ensembl chr18:51,314,177...51,323,718 		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 chr18:49,826,044...49,835,417
Ensembl chr18:49,826,026...49,882,461 		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 chr18:51,015,575...51,019,909
Ensembl chr18:51,015,641...51,019,901 		JBrowse link
G ZDHHC24 zinc finger DHHC-type containing 24 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr18:50,801,179...50,808,480
Ensembl chr18:50,801,303...50,806,877 		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 chr18:51,634,946...51,636,330
Ensembl chr18:51,634,892...51,637,087 		JBrowse link
Aicardi-Goutieres Syndrome 4 term browser
Symbol Object Name 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 chr20:49,299,236...49,301,815
Ensembl chr20:49,299,406...49,301,814 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr20:49,284,341...49,290,456
Ensembl chr20:49,284,425...49,290,849 		JBrowse link
G KLF1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr20:49,295,097...49,298,668
Ensembl chr20:49,295,195...49,298,602 		JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr20:49,302,037...49,329,247
Ensembl chr20:49,302,162...49,329,837 		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 chr20:49,345,258...49,352,944
Ensembl chr20:49,345,266...49,355,167 		JBrowse link
G RTBDN retbindin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr20:49,324,843...49,337,226
Ensembl chr20:49,334,127...49,337,223 		JBrowse link
G SYCE2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr20:49,267,985...49,285,986
Ensembl chr20:49,281,773...49,283,880 		JBrowse link
Aicardi-Goutieres Syndrome 5 term browser
Symbol Object Name 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 chr24:26,115,356...26,125,963
Ensembl chr24:26,116,887...26,117,150 		JBrowse link
G CTNNBL1 catenin beta like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr24:26,253,884...26,415,166
Ensembl chr24:26,253,962...26,415,163 		JBrowse link
G GHRH growth hormone releasing hormone ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr24:25,893,224...25,902,095
Ensembl chr24:25,893,225...25,897,712 		JBrowse link
G MANBAL mannosidase beta like ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr24:25,921,827...25,947,363
Ensembl chr26:9,823,398...9,823,589 		JBrowse link
G MROH8 maestro heat like repeat family member 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr24:25,768,115...25,827,848
Ensembl chr24:25,770,731...25,828,080 		JBrowse link
G NNAT neuronatin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr24:26,119,153...26,121,573
Ensembl chr24:26,118,991...26,120,906 		JBrowse link
G RBL1 RB transcriptional corepressor like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr24:25,698,313...25,757,358
Ensembl chr24:25,699,638...25,757,229 		JBrowse link
G RPN2 ribophorin II ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr24:25,827,524...25,884,813
Ensembl chr24:25,827,450...25,955,742 		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 chr24:25,623,997...25,676,336
Ensembl chr24:25,626,134...25,680,902 		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 chr24:25,982,499...26,019,748
Ensembl chr24:25,999,048...26,018,077 		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 chr24:25,602,002...25,623,273
Ensembl chr24:25,610,851...25,623,803 		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 OMIM
ClinVar		 PMID:9536098 PMID:9889202 PMID:15146470 PMID:15489923 PMID:15955093 More... NCBI chr 7:42,762,021...42,785,192
Ensembl chr 7:42,748,136...42,782,999 		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 OMIM
ClinVar		 PMID:16199547 PMID:21070929 PMID:24686847 PMID:24995871 PMID:25243380 More... NCBI chr36:7,668,925...7,727,040
Ensembl chr36:7,649,727...8,261,048 		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 chr 4:52,532,660...52,546,273 JBrowse link
Aicardi-Goutieres Syndrome 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C27H12orf57 chromosome 27 C12orf57 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 ClinVar PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297 NCBI chr27:38,101,705...38,103,553
Ensembl chr27:38,101,786...38,127,910
Ensembl chr27:38,101,786...38,127,910 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17773
    disease of anatomical entity 15145
      nervous system disease 13207
        Nervous System Malformations 2357
          Aicardi-Goutieres syndrome 206
            Aicardi-Goutieres Syndrome 1 63
            Aicardi-Goutieres Syndrome 2 1
            Aicardi-Goutieres Syndrome 3 120
            Aicardi-Goutieres Syndrome 4 7
            Aicardi-Goutieres Syndrome 5 11
            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 17773
    Nutritional and Metabolic Diseases 7183
      disease of metabolism 7183
        acquired metabolic disease 2301
          mineral metabolism disease 970
            calcium metabolism disease 592
              calcinosis 523
                basal ganglia calcification 290
                  Aicardi-Goutieres syndrome 206
                    Aicardi-Goutieres Syndrome 1 63
                    Aicardi-Goutieres Syndrome 2 1
                    Aicardi-Goutieres Syndrome 3 120
                    Aicardi-Goutieres Syndrome 4 7
                    Aicardi-Goutieres Syndrome 5 11
                    Aicardi-Goutieres Syndrome 6 1
                    Aicardi-Goutieres Syndrome 7 1
                    Aicardi-Goutieres Syndrome 8 1
                    Aicardi-Goutieres Syndrome 9 1
paths to the root