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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 4
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Accession:DOID:9000258 term browser browse the term
Synonyms:exact_synonym: AGS4;   RNASEH2A-RELATED CONDITION
 primary_id: MESH:C563681
 alt_id: OMIM:610333

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Aicardi-Goutieres Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N 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 G DNASE2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 6:11,557,034...11,570,117
Ensembl chr 6:11,553,904...11,570,244 		JBrowse link
G P DNASE2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 2:66,150,071...66,152,857
Ensembl chr 2:66,149,862...66,152,855 		JBrowse link
G S Dnase2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004936659:1,943,673...1,945,994
Ensembl chrNW_004936659:1,941,372...1,946,087 		JBrowse link
G D 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 B DNASE2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:12,436,898...12,443,530
Ensembl chr19:13,180,073...13,185,650 		JBrowse link
G C Dnase2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004955415:31,936,588...31,939,540
Ensembl chrNW_004955415:31,936,757...31,939,339 		JBrowse link
G R Dnase2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:23,244,656...23,247,376
Ensembl chr19:23,244,664...23,247,376 		JBrowse link
G H DNASE2 deoxyribonuclease 2, lysosomal IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:12,875,209...12,881,449
Ensembl chr19:12,875,209...12,881,595 		JBrowse link
G M Dnase2a deoxyribonuclease II alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 8:85,635,384...85,638,332
Ensembl chr 8:85,635,189...85,649,544 		JBrowse link
G N 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 G GCDH glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 6:11,572,512...11,588,108
Ensembl chr 6:11,572,540...11,588,224 		JBrowse link
G P GCDH glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 2:66,131,154...66,138,963
Ensembl chr 2:66,130,625...66,138,868 		JBrowse link
G S Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004936659:1,955,601...1,961,925
Ensembl chrNW_004936659:1,955,559...1,962,758 		JBrowse link
G D 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 B GCDH glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:12,452,779...12,461,757
Ensembl chr19:13,195,241...13,204,223 		JBrowse link
G C Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004955415:31,952,400...31,958,067
Ensembl chrNW_004955415:31,952,580...31,961,615 		JBrowse link
G R Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681 		JBrowse link
G M Gcdh glutaryl-Coenzyme A dehydrogenase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 8:85,613,016...85,629,378
Ensembl chr 8:85,613,022...85,620,550 		JBrowse link
G H GCDH glutaryl-CoA dehydrogenase IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126 		JBrowse link
G N 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 G KLF1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 6:11,563,773...11,566,615
Ensembl chr 6:11,564,235...11,566,495 		JBrowse link
G P KLF1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 2:66,144,767...66,148,500
Ensembl chr 2:66,144,777...66,148,517 		JBrowse link
G S Klf1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004936659:1,946,614...1,950,003
Ensembl chrNW_004936659:1,947,075...1,950,003 		JBrowse link
G D 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 B KLF1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:12,446,130...12,449,238
Ensembl chr19:13,188,652...13,191,425 		JBrowse link
G C Klf1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004955415:31,939,994...31,943,539
Ensembl chrNW_004955415:31,939,873...31,943,545 		JBrowse link
G R Klf1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758 		JBrowse link
G M Klf1 Kruppel-like transcription factor 1 (erythroid) ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 8:85,628,611...85,631,920
Ensembl chr 8:85,628,557...85,631,924 		JBrowse link
G H KLF1 KLF transcription factor 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201 		JBrowse link
G H LOC117038795 CRISPRi-FlowFISH-validated PRDX2 regulatory element 4 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar Annotator: match by term: RNASEH2A-related condition		 ClinVar PMID:9536098 PMID:15870678 PMID:16199547 PMID:16845400 PMID:17576681 More... NCBI chr19:12,805,831...12,806,863 JBrowse link
G N 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 G MAST1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 6:11,516,337...11,555,940
Ensembl chr 6:11,520,813...11,557,680 		JBrowse link
G P MAST1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 2:66,153,109...66,184,303
Ensembl chr 2:66,153,115...66,184,289 		JBrowse link
G S Mast1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004936659:1,919,191...1,943,440
Ensembl chrNW_004936659:1,918,420...1,946,087 		JBrowse link
G D 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 B MAST1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:12,395,531...12,436,646
Ensembl chr19:13,138,382...13,179,569 		JBrowse link
G C Mast1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004955415:31,907,660...31,935,769
Ensembl chrNW_004955415:31,907,630...31,939,762 		JBrowse link
G R MAST1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:23,216,418...23,244,224
Ensembl chr19:23,207,991...23,244,235 		JBrowse link
G M Mast1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 8:85,638,482...85,672,811
Ensembl chr 8:85,638,532...85,663,988 		JBrowse link
G H MAST1 microtubule associated serine/threonine kinase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:12,838,515...12,874,952
Ensembl chr19:12,833,951...12,874,952 		JBrowse link
G N 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 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 chr 6:11,493,752...11,501,167
Ensembl chr 6:11,493,764...11,501,363 		JBrowse link
G P 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 chr 2:66,192,785...66,208,417
Ensembl chr 2:66,193,197...66,207,697 		JBrowse link
G S 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_004936659:1,897,777...1,905,526
Ensembl chrNW_004936659:1,897,769...1,905,457 		JBrowse link
G D 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 B 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 chr19:12,363,721...12,375,316
Ensembl chr19:13,112,242...13,119,514 		JBrowse link
G C 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_004955415:31,884,533...31,894,159
Ensembl chrNW_004955415:31,884,533...31,898,433 		JBrowse link
G R Rnaseh2a ribonuclease H2, subunit A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 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
G M Rnaseh2a ribonuclease H2, large subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15870678 PMID:16199547 PMID:16845400 PMID:17576681 More... NCBI chr 8:85,683,239...85,694,498
Ensembl chr 8:85,683,239...85,696,396 		JBrowse link
G H RNASEH2A ribonuclease H2 subunit A IAGP
EXP		 ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:15870678 PMID:16199547 PMID:16845400 PMID:17576681 More... NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G N 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 G RTBDN retbindin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 6:11,508,417...11,524,011 JBrowse link
G P RTBDN retbindin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 2:66,188,077...66,191,434
Ensembl chr 2:66,188,089...66,193,654 		JBrowse link
G S Rtbdn retbindin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004936659:1,907,933...1,911,690
Ensembl chrNW_004936659:1,907,936...1,911,994 		JBrowse link
G D 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 B RTBDN retbindin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:12,387,165...12,397,157
Ensembl chr19:13,129,659...13,139,842 		JBrowse link
G C Rtbdn retbindin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004955415:31,895,446...31,899,927
Ensembl chrNW_004955415:31,895,507...31,899,303 		JBrowse link
G R Rtbdn retbindin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438 		JBrowse link
G M Rtbdn retbindin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 8:85,672,880...85,683,235
Ensembl chr 8:85,673,620...85,683,232 		JBrowse link
G H RTBDN retbindin IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:12,825,482...12,835,428
Ensembl chr19:12,825,478...12,835,428 		JBrowse link
G N 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
G G SYCE2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 6:11,581,915...11,599,770 JBrowse link
G P SYCE2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 2:66,118,439...66,133,454
Ensembl chr 2:66,128,492...66,131,963 		JBrowse link
G S Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004936659:1,962,055...1,978,743
Ensembl chrNW_004936659:1,961,243...1,978,743 		JBrowse link
G D 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
G B SYCE2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:12,459,646...12,481,833
Ensembl chr19:13,203,595...13,224,052 		JBrowse link
G C Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chrNW_004955415:31,957,244...31,969,922
Ensembl chrNW_004955415:31,957,489...31,969,859 		JBrowse link
G R Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:23,266,236...23,291,265
Ensembl chr19:23,268,869...23,300,980 		JBrowse link
G M Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 8:85,598,740...85,614,075
Ensembl chr 8:85,598,740...85,614,850 		JBrowse link
G H SYCE2 synaptonemal complex central element protein 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr19:12,898,786...12,919,293
Ensembl chr19:12,898,786...12,919,293 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 175454
    disease of anatomical entity 168442
      nervous system disease 143041
        Nervous System Malformations 24162
          Aicardi-Goutieres syndrome 2075
            Aicardi-Goutieres Syndrome 4 71
Path 2
Term Annotations click to browse term
  disease 175454
    Nutritional and Metabolic Diseases 74965
      disease of metabolism 74965
        acquired metabolic disease 23221
          mineral metabolism disease 9447
            calcium metabolism disease 6279
              calcinosis 5578
                basal ganglia calcification 2901
                  Aicardi-Goutieres syndrome 2075
                    Aicardi-Goutieres Syndrome 4 71
paths to the root