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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:basal ganglia calcification
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Accession:DOID:0060230 term browser browse the term
Definition:A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills. (DO)
Synonyms:exact_synonym: Fahr disease
 primary_id: RDO:9004937
 xref: MIM:PS213600;   NCI:C129973


show annotations for term's descendants           Sort by:
basal ganglia calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYORG myogenesis regulating glycosidase ISS OMIM:114100 | OMIM:213600 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr 9:34,366,666...34,376,898
Ensembl chr 9:34,366,666...34,376,898 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISS OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G SLC20A2 solute carrier family 20 member 2 ISS OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr 8:42,416,475...42,541,954
Ensembl chr 8:42,416,475...42,541,926 		JBrowse link
Aicardi-Goutieres syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP
ISS
EXP		 DNA:mutations:exons:
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846
CTD Direct Evidence: marker/mechanism		 ClinVar
MouseDO
CTD
RGD		 PMID:9889202 PMID:19060901 PMID:20301648 PMID:23001123 PMID:24033266 More... RGD:11069491 NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS
ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS 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 chr 3:48,446,779...48,467,645
Ensembl chr 3:48,446,710...48,467,645 		JBrowse link
G ATRIP ATR interacting protein IAGP ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS
ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS 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 chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645 		JBrowse link
G IFIH1 interferon induced with helicase C domain 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome		 CTD
ClinVar		 PMID:24686847 PMID:25741868 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
G KAT5 lysine acetyltransferase 5 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604 		JBrowse link
G LOC117038795 CRISPRi-FlowFISH-validated PRDX2 regulatory element 4 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:17846997 PMID:21454563 PMID:23592335 PMID:25604658 PMID:25741868 More... NCBI chr19:12,805,831...12,806,863 JBrowse link
G LOC130009809 ATAC-STARR-seq lymphoblastoid silent region 5361 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar NCBI chr13:50,909,606...50,910,035 JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:17846997 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 More... NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome		 CTD
ClinVar		 PMID:16199547 PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 More... NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNASEH2B-AS1 RNASEH2B antisense RNA 1 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar NCBI chr13:50,882,378...50,910,712
Ensembl chr13:50,862,172...50,910,789 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9536098 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 More... NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome		 CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G TLDC2 TBC/LysM-associated domain containing 2 IAGP ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chr20:36,876,121...36,894,235
Ensembl chr20:36,876,121...36,894,235 		JBrowse link
G TREX1 three prime repair exonuclease 1 EXP
IAGP
ISS		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846		 CTD
ClinVar
MouseDO		 PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G USP18 ubiquitin specific peptidase 18 EXP CTD Direct Evidence: marker/mechanism CTD NCBI chr22:18,150,170...18,177,397
Ensembl chr22:18,149,843...18,177,397 		JBrowse link
Aicardi-Goutieres Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMIGO3 adhesion molecule with Ig like domain 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,716,829...49,719,684
Ensembl chr 3:49,716,829...49,719,684 		JBrowse link
G AMT aminomethyltransferase IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,416,778...49,422,473
Ensembl chr 3:49,416,778...49,422,685 		JBrowse link
G APEH acylaminoacyl-peptide hydrolase IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,673,117...49,683,971
Ensembl chr 3:49,674,014...49,683,971 		JBrowse link
G ARIH2 ariadne RBR E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,918,842...48,986,382
Ensembl chr 3:48,918,821...48,986,382 		JBrowse link
G ARIH2OS ARIH2 opposite strand lncRNA IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,917,788...48,919,385
Ensembl chr 3:48,917,765...48,918,829 		JBrowse link
G ATRIP ATR interacting protein IAGP 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:3580372 PMID:16845398 PMID:16960810 More... NCBI chr 3:48,446,779...48,467,645
Ensembl chr 3:48,446,710...48,467,645 		JBrowse link
G ATRIP ATR interacting protein IAGP 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:3580372 PMID:16845398 PMID:16960810 More... NCBI chr 3:48,446,737...48,467,645
Ensembl chr 3:48,446,710...48,467,645 		JBrowse link
G BSN bassoon presynaptic cytomatrix protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,554,477...49,673,130
Ensembl chr 3:49,554,477...49,671,549 		JBrowse link
G C3orf62 chromosome 3 open reading frame 62 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,268,596...49,277,232
Ensembl chr 3:49,268,596...49,277,232 		JBrowse link
G CAMKV CaM kinase like vesicle associated IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,857,989...49,869,906
Ensembl chr 3:49,857,988...49,869,935 		JBrowse link
G CCDC71 coiled-coil domain containing 71 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,162,535...49,166,331
Ensembl chr 3:49,162,535...49,166,331 		JBrowse link
G CDHR4 cadherin related family member 4 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,790,732...49,802,914
Ensembl chr 3:49,790,732...49,799,873 		JBrowse link
G CELSR3 cadherin EGF LAG seven-pass G-type receptor 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,636,463...48,662,886
Ensembl chr 3:48,636,463...48,662,886 		JBrowse link
G CIMIP7 ciliary microtubule inner protein 7 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,177,634...49,191,858
Ensembl chr 3:49,177,634...49,191,858 		JBrowse link
G COL7A1 collagen type VII alpha 1 chain IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,564,073...48,595,329
Ensembl chr 3:48,564,073...48,595,329 		JBrowse link
G DAG1 dystroglycan 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,468,948...49,535,615
Ensembl chr 3:49,468,713...49,535,618 		JBrowse link
G DALRD3 DALR anticodon binding domain containing 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,015,488...49,021,505
Ensembl chr 3:49,015,488...49,022,293 		JBrowse link
G DCLRE1C DNA cross-link repair 1C IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:18223550 PMID:25741868 PMID:25917813 PMID:28492532 NCBI chr10:14,897,359...14,954,432
Ensembl chr10:14,897,359...14,954,432 		JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,719,916...49,723,951
Ensembl chr 3:49,716,844...49,723,973 		JBrowse link
G GNAI2 G protein subunit alpha i2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,227,068...50,263,358
Ensembl chr 3:50,226,292...50,259,362 		JBrowse link
G GNAT1 G protein subunit alpha transducin 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,191,610...50,197,696
Ensembl chr 3:50,191,610...50,197,696 		JBrowse link
G GPX1 glutathione peroxidase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,357,176...49,358,353
Ensembl chr 3:49,357,174...49,358,605 		JBrowse link
G HYAL1 hyaluronidase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,299,893...50,312,381
Ensembl chr 3:50,299,890...50,312,381 		JBrowse link
G HYAL3 hyaluronidase 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,292,832...50,299,405
Ensembl chr 3:50,292,831...50,299,405 		JBrowse link
G IFRD2 interferon related developmental regulator 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,287,732...50,292,429
Ensembl chr 3:50,287,732...50,292,918 		JBrowse link
G IHO1 interactor of HORMAD1 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,191,309...49,258,106
Ensembl chr 3:49,198,428...49,258,106 		JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,024,325...49,029,398
Ensembl chr 3:49,024,325...49,029,447 		JBrowse link
G INKA1 inka box actin regulator 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,803,261...49,805,030
Ensembl chr 3:49,803,261...49,805,030 		JBrowse link
G IP6K1 inositol hexakisphosphate kinase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,724,294...49,786,542
Ensembl chr 3:49,724,294...49,786,542 		JBrowse link
G IP6K2 inositol hexakisphosphate kinase 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,688,003...48,717,221
Ensembl chr 3:48,688,003...48,740,353 		JBrowse link
G KLHDC8B kelch domain containing 8B IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,171,598...49,176,486
Ensembl chr 3:49,171,598...49,176,486 		JBrowse link
G LAMB2 laminin subunit beta 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,121,114...49,133,050
Ensembl chr 3:49,121,114...49,133,118 		JBrowse link
G LSMEM2 leucine rich single-pass membrane protein 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,277,907...50,288,114
Ensembl chr 3:50,279,087...50,288,114 		JBrowse link
G MIR191 microRNA 191 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,020,618...49,020,709
Ensembl chr 3:49,020,618...49,020,709 		JBrowse link
G MON1A MON1 homolog A, secretory trafficking associated IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,908,873...49,929,811
Ensembl chr 3:49,907,160...49,930,173 		JBrowse link
G MST1 macrophage stimulating 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,683,947...49,689,474
Ensembl chr 3:49,683,947...49,689,501 		JBrowse link
G MST1R macrophage stimulating 1 receptor IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,887,002...49,903,873
Ensembl chr 3:49,886,902...49,903,873 		JBrowse link
G NAA80 N-alpha-acetyltransferase 80, NatH catalytic subunit IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,296,402...50,299,405
Ensembl chr 3:50,296,402...50,299,416 		JBrowse link
G NCKIPSD NCK interacting protein with SH3 domain IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,673,844...48,685,915
Ensembl chr 3:48,673,844...48,686,364 		JBrowse link
G NDUFAF3 NADH:ubiquinone oxidoreductase complex assembly factor 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,020,452...49,023,495
Ensembl chr 3:49,020,459...49,023,495 		JBrowse link
G NICN1 nicolin 1, tubulin polyglutamylase complex subunit IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,422,333...49,429,324
Ensembl chr 3:49,422,333...49,429,326 		JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,989,908...49,007,153
Ensembl chr 3:48,989,889...49,007,153 		JBrowse link
G PFKFB4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,517,684...48,563,136
Ensembl chr 3:48,517,684...48,562,015 		JBrowse link
G PRKAR2A protein kinase cAMP-dependent type II regulatory subunit alpha IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,744,591...48,847,874
Ensembl chr 3:48,744,597...48,847,874 		JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,095,932...49,104,757
Ensembl chr 3:49,095,932...49,105,130 		JBrowse link
G QRICH1 glutamine rich 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,029,707...49,094,373
Ensembl chr 3:49,029,707...49,094,363 		JBrowse link
G RBM5 RNA binding motif protein 5 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,088,919...50,119,021
Ensembl chr 3:50,088,919...50,119,021 		JBrowse link
G RBM6 RNA binding motif protein 6 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,940,150...50,077,249
Ensembl chr 3:49,940,007...50,100,045 		JBrowse link
G RHOA ras homolog family member A IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,359,145...49,411,976
Ensembl chr 3:49,359,139...49,412,998 		JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:25741868 NCBI chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNF123 ring finger protein 123 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,689,557...49,721,529
Ensembl chr 3:49,689,538...49,721,529 		JBrowse link
G SEMA3B semaphorin 3B IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,267,652...50,277,546
Ensembl chr 3:50,267,558...50,277,546 		JBrowse link
G SEMA3F semaphorin 3F IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,155,058...50,189,075
Ensembl chr 3:50,155,045...50,189,075 		JBrowse link
G SEMA3F-AS1 SEMA3F antisense RNA 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,116,022...50,156,085
Ensembl chr 3:50,116,022...50,156,085 		JBrowse link
G SHISA5 shisa family member 5 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,467,876...48,504,810
Ensembl chr 3:48,467,798...48,504,826 		JBrowse link
G SLC25A20 solute carrier family 25 member 20 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,856,926...48,898,882
Ensembl chr 3:48,856,926...48,898,904 		JBrowse link
G SLC26A6 solute carrier family 26 member 6 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,625,723...48,635,461
Ensembl chr 3:48,625,723...48,635,493 		JBrowse link
G SLC38A3 solute carrier family 38 member 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:50,205,271...50,221,486
Ensembl chr 3:50,205,246...50,221,486 		JBrowse link
G TCTA T cell leukemia translocation altered IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,412,423...49,416,476
Ensembl chr 3:49,412,212...49,416,476 		JBrowse link
G TMEM89 transmembrane protein 89 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,620,759...48,621,769
Ensembl chr 3:48,620,759...48,621,769 		JBrowse link
G TRAIP TRAF interacting protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,828,601...49,856,564
Ensembl chr 3:49,828,601...49,856,574 		JBrowse link
G TREX1 three prime repair exonuclease 1 susceptibility IAGP 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:3580372 PMID:16845398 PMID:16960810 More... NCBI chr 3:48,465,830...48,467,645
Ensembl chr 3:48,465,811...48,467,645 		JBrowse link
G UBA7 ubiquitin like modifier activating enzyme 7 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,805,209...49,813,953
Ensembl chr 3:49,805,209...49,813,953 		JBrowse link
G UCN2 urocortin 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,561,718...48,563,781
Ensembl chr 3:48,561,718...48,563,781 		JBrowse link
G UQCRC1 ubiquinol-cytochrome c reductase core protein 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:48,599,002...48,609,646
Ensembl chr 3:48,599,002...48,610,976 		JBrowse link
G USP19 ubiquitin specific peptidase 19 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,108,050...49,120,823
Ensembl chr 3:49,108,046...49,120,938 		JBrowse link
G USP4 ubiquitin specific peptidase 4 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,277,144...49,340,053
Ensembl chr 3:49,277,144...49,340,712 		JBrowse link
G WDR6 WD repeat domain 6 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 3:49,007,391...49,015,951
Ensembl chr 3:49,007,062...49,015,953 		JBrowse link
Aicardi-Goutieres Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC130009809 ATAC-STARR-seq lymphoblastoid silent region 5361 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 ClinVar PMID:25741868 NCBI chr13:50,909,606...50,910,035 JBrowse link
G LOC130009810 ATAC-STARR-seq lymphoblastoid silent region 5362 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 | ClinVar Annotator: match by term: RNASEH2B-related condition		 ClinVar PMID:9536098 PMID:17576681 PMID:17846997 PMID:25741868 PMID:28492532 NCBI chr13:50,910,046...50,910,285 JBrowse link
G RNASEH2B ribonuclease H2 subunit B IAGP ClinVar Annotator: match by term: RNASEH2B-related condition
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 chr13:50,909,678...50,970,460
Ensembl chr13:50,909,747...51,024,120 		JBrowse link
G RNASEH2B-AS1 RNASEH2B antisense RNA 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 | ClinVar Annotator: match by term: RNASEH2B-related condition		 ClinVar PMID:9536098 PMID:17576681 PMID:17846997 PMID:25741868 PMID:28492532 NCBI chr13:50,882,378...50,910,712
Ensembl chr13:50,862,172...50,910,789 		JBrowse link
Aicardi-Goutieres Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACTN3 actinin alpha 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,546,395...66,563,334
Ensembl chr11:66,546,395...66,563,334 		JBrowse link
G ACY3 aminoacylase 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,642,555...67,650,730
Ensembl chr11:67,642,555...67,650,730 		JBrowse link
G AIP aryl hydrocarbon receptor interacting protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,483,026...67,491,103
Ensembl chr11:67,468,174...67,491,154 		JBrowse link
G ALDH3B1 aldehyde dehydrogenase 3 family member B1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,008,547...68,029,276
Ensembl chr11:68,008,578...68,029,282 		JBrowse link
G ALDH3B2 aldehyde dehydrogenase 3 family member B2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,662,155...67,681,252
Ensembl chr11:67,662,155...67,681,224 		JBrowse link
G ANKRD13D ankyrin repeat domain 13D IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,289,303...67,302,484
Ensembl chr11:67,289,300...67,302,485 		JBrowse link
G ANO1 anoctamin 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:69,965,997...70,189,530
Ensembl chr11:69,985,907...70,189,530 		JBrowse link
G AP5B1 adaptor related protein complex 5 subunit beta 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,773,898...65,780,976
Ensembl chr11:65,773,898...65,780,976 		JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,345,374...66,347,629
Ensembl chr11:66,345,374...66,347,629 		JBrowse link
G BANF1 barrier to autointegration nuclear assembly factor 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,002,079...66,004,149
Ensembl chr11:66,002,228...66,004,149 		JBrowse link
G BBS1 Bardet-Biedl syndrome 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,510,635...66,533,598
Ensembl chr11:66,510,606...66,533,613 		JBrowse link
G BRMS1 BRMS1 transcriptional repressor and anoikis regulator IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,337,339...66,345,104
Ensembl chr11:66,337,333...66,345,125 		JBrowse link
G C11orf24 chromosome 11 open reading frame 24 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,261,338...68,271,973
Ensembl chr11:68,261,338...68,272,001 		JBrowse link
G C11orf68 chromosome 11 open reading frame 68 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,916,810...65,919,062
Ensembl chr11:65,916,810...65,919,062 		JBrowse link
G C11orf86 chromosome 11 open reading frame 86 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,975,304...66,977,009
Ensembl chr11:66,975,277...66,977,009 		JBrowse link
G CABP2 calcium binding protein 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,518,912...67,523,446
Ensembl chr11:67,518,912...67,524,517 		JBrowse link
G CABP4 calcium binding protein 4 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,452,403...67,461,752
Ensembl chr11:67,452,406...67,461,752 		JBrowse link
G CAPN1 calpain 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,181,373...65,212,006
Ensembl chr11:65,180,566...65,212,006 		JBrowse link
G CARNS1 carnosine synthase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,415,678...67,425,604
Ensembl chr11:67,414,968...67,425,607 		JBrowse link
G CATSPER1 cation channel sperm associated 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,016,752...66,026,479
Ensembl chr11:66,016,752...66,026,479 		JBrowse link
G CCDC85B coiled-coil domain containing 85B IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,890,673...65,891,635
Ensembl chr11:65,890,673...65,891,635 		JBrowse link
G CCDC87 coiled-coil domain containing 87 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,590,176...66,593,063
Ensembl chr11:66,590,176...66,593,063 		JBrowse link
G CCND1 cyclin D1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:69,641,156...69,654,474
Ensembl chr11:69,641,156...69,654,474 		JBrowse link
G CCS copper chaperone for superoxide dismutase IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,593,185...66,606,019
Ensembl chr11:66,593,153...66,606,019 		JBrowse link
G CD248 CD248 molecule IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,314,494...66,317,044
Ensembl chr11:66,314,494...66,317,044 		JBrowse link
G CDC42EP2 CDC42 effector protein 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,314,866...65,322,417
Ensembl chr11:65,314,866...65,322,417 		JBrowse link
G CDK2AP2 cyclin dependent kinase 2 associated protein 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,506,497...67,508,162
Ensembl chr11:67,506,497...67,508,649 		JBrowse link
G CFL1 cofilin 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,854,673...65,858,180
Ensembl chr11:65,823,022...65,862,026 		JBrowse link
G CHKA choline kinase alpha IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,052,859...68,121,388
Ensembl chr11:68,052,859...68,121,444 		JBrowse link
G CLCF1 cardiotrophin like cytokine factor 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,364,168...67,374,177
Ensembl chr11:67,364,168...67,374,177 		JBrowse link
G CNIH2 cornichon family AMPA receptor auxiliary protein 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,278,175...66,284,206
Ensembl chr11:66,278,175...66,285,301 		JBrowse link
G CORO1B coronin 1B IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,435,510...67,443,809
Ensembl chr11:67,435,510...67,443,821 		JBrowse link
G CPT1A carnitine palmitoyltransferase 1A IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,754,620...68,844,277
Ensembl chr11:68,754,620...68,844,410 		JBrowse link
G CST6 cystatin E/M IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,012,008...66,013,505
Ensembl chr11:66,012,008...66,013,505 		JBrowse link
G CTSF cathepsin F IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,563,464...66,568,606
Ensembl chr11:66,563,464...66,568,879 		JBrowse link
G CTSW cathepsin W IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,879,837...65,883,741
Ensembl chr11:65,879,809...65,883,741 		JBrowse link
G DPF2 double PHD fingers 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,333,852...65,354,262
Ensembl chr11:65,333,843...65,354,262 		JBrowse link
G DPP3 dipeptidyl peptidase 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,480,434...66,509,657
Ensembl chr11:66,480,013...66,509,657 		JBrowse link
G DRAP1 DR1 associated protein 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,919,426...65,921,563
Ensembl chr11:65,919,274...65,921,563 		JBrowse link
G EFEMP2 EGF containing fibulin extracellular matrix protein 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,866,441...65,872,800
Ensembl chr11:65,866,441...65,873,592 		JBrowse link
G EHBP1L1 EH domain binding protein 1 like 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,576,053...65,592,650
Ensembl chr11:65,576,046...65,592,650 		JBrowse link
G EIF1AD eukaryotic translation initiation factor 1A domain containing IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,996,545...66,002,157
Ensembl chr11:65,996,545...66,002,176 		JBrowse link
G FADD Fas associated via death domain IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:70,203,296...70,207,390
Ensembl chr11:70,203,296...70,207,390 		JBrowse link
G FAM89B family with sequence similarity 89 member B IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,572,538...65,574,190
Ensembl chr11:65,572,349...65,574,198 		JBrowse link
G FGF19 fibroblast growth factor 19 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:69,698,238...69,704,022
Ensembl chr11:69,698,238...69,704,022 		JBrowse link
G FGF3 fibroblast growth factor 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:69,809,968...69,819,416
Ensembl chr11:69,809,968...69,819,416 		JBrowse link
G FGF4 fibroblast growth factor 4 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:69,771,022...69,775,341
Ensembl chr11:69,771,022...69,775,341 		JBrowse link
G FIBP FGF1 intracellular binding protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,883,740...65,888,471
Ensembl chr11:65,883,740...65,888,531 		JBrowse link
G FOSL1 FOS like 1, AP-1 transcription factor subunit IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,892,049...65,900,545
Ensembl chr11:65,892,049...65,900,573 		JBrowse link
G FRMD8 FERM domain containing 8 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,368,026...65,413,525
Ensembl chr11:65,386,621...65,413,525 		JBrowse link
G GAL galanin and GMAP prepropeptide IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,684,544...68,691,175
Ensembl chr11:68,683,779...68,691,175 		JBrowse link
G GAL3ST3 galactose-3-O-sulfotransferase 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,040,765...66,049,161
Ensembl chr11:66,040,765...66,049,161 		JBrowse link
G GPR152 G protein-coupled receptor 152 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,451,301...67,452,729
Ensembl chr11:67,451,301...67,452,729 		JBrowse link
G GRK2 G protein-coupled receptor kinase 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,266,473...67,286,556
Ensembl chr11:67,266,473...67,286,556 		JBrowse link
G GSTP1 glutathione S-transferase pi 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,583,812...67,586,653
Ensembl chr11:67,583,742...67,586,656 		JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,903,891...68,940,601
Ensembl chr11:68,903,863...68,940,602 		JBrowse link
G KAT5 lysine acetyltransferase 5 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:25741868 PMID:28492532 PMID:28600438 NCBI chr11:65,712,018...65,719,604
Ensembl chr11:65,711,996...65,719,604 		JBrowse link
G KCNK7 potassium two pore domain channel subfamily K member 7 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,592,836...65,595,800
Ensembl chr11:65,592,836...65,595,996 		JBrowse link
G KDM2A lysine demethylase 2A IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,119,263...67,258,082
Ensembl chr11:67,119,263...67,258,082 		JBrowse link
G KLC2 kinesin light chain 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,243,938...66,267,860
Ensembl chr11:66,257,294...66,267,860 		JBrowse link
G KMT5B lysine methyltransferase 5B IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,154,863...68,213,648
Ensembl chr11:68,154,863...68,213,852 		JBrowse link
G LOC130006061 ATAC-STARR-seq lymphoblastoid silent region 3553 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:9536098 PMID:17576681 PMID:20131292 PMID:25741868 PMID:28492532 More... NCBI chr11:65,720,484...65,720,723 JBrowse link
G LOC130006062 ATAC-STARR-seq lymphoblastoid active region 5003 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:25741868 NCBI chr11:65,720,874...65,720,943 JBrowse link
G LRFN4 leucine rich repeat and fibronectin type III domain containing 4 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,857,064...66,860,475
Ensembl chr11:66,856,647...66,860,475 		JBrowse link
G LRP5 LDL receptor related protein 5 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,298,412...68,449,275
Ensembl chr11:68,312,591...68,449,275 		JBrowse link
G LTBP3 latent transforming growth factor beta binding protein 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,538,559...65,558,359
Ensembl chr11:65,538,559...65,558,930 		JBrowse link
G LTO1 LTO1 maturation factor of ABCE1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:69,665,563...69,675,353
Ensembl chr11:69,653,076...69,675,416 		JBrowse link
G MALAT1 metastasis associated lung adenocarcinoma transcript 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,497,738...65,506,516
Ensembl chr11:65,497,606...65,508,073 		JBrowse link
G MAP3K11 mitogen-activated protein kinase kinase kinase 11 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,597,757...65,614,221
Ensembl chr11:65,597,756...65,615,382 		JBrowse link
G MRGPRD MAS related GPR family member D IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,980,021...68,980,986
Ensembl chr11:68,980,021...68,980,986 		JBrowse link
G MRGPRF MAS related GPR family member F IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:69,004,398...69,013,633
Ensembl chr11:69,004,398...69,013,246 		JBrowse link
G MRPL11 mitochondrial ribosomal protein L11 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,435,075...66,438,848
Ensembl chr11:66,435,075...66,466,738 		JBrowse link
G MRPL21 mitochondrial ribosomal protein L21 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,891,278...68,903,832
Ensembl chr11:68,891,276...68,903,835 		JBrowse link
G MUS81 MUS81 structure-specific endonuclease subunit IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,859,674...65,867,653
Ensembl chr11:65,857,126...65,867,653 		JBrowse link
G MYEOV myeloma overexpressed IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:69,294,155...69,297,287
Ensembl chr11:69,294,151...69,341,682 		JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,030,681...68,036,644
Ensembl chr11:68,030,617...68,036,644 		JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,606,936...67,612,554
Ensembl chr11:67,605,653...67,612,554 		JBrowse link
G NDUFV1-DT NDUFV1 divergent transcript IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,602,880...67,606,706
Ensembl chr11:67,602,880...67,606,766 		JBrowse link
G NEAT1 nuclear paraspeckle assembly transcript 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,422,798...65,445,540
Ensembl chr11:65,422,278...65,445,540 		JBrowse link
G NPAS4 neuronal PAS domain protein 4 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,409,158...66,426,707
Ensembl chr11:66,421,035...66,426,707 		JBrowse link
G NUDT8 nudix hydrolase 8 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,627,938...67,629,937
Ensembl chr11:67,627,938...67,629,937 		JBrowse link
G OVOL1 ovo like transcriptional repressor 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,787,063...65,797,214
Ensembl chr11:65,787,063...65,797,214 		JBrowse link
G PACS1 phosphofurin acidic cluster sorting protein 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,070,272...66,244,744
Ensembl chr11:66,070,272...66,244,744 		JBrowse link
G PC pyruvate carboxylase IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,848,420...66,958,383
Ensembl chr11:66,848,417...66,958,386 		JBrowse link
G PCNX3 pecanex 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,615,776...65,637,439
Ensembl chr11:65,615,776...65,637,439 		JBrowse link
G PELI3 pellino E3 ubiquitin protein ligase family member 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,466,327...66,477,337
Ensembl chr11:66,466,327...66,477,337 		JBrowse link
G PITPNM1 phosphatidylinositol transfer protein membrane associated 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,491,768...67,506,266
Ensembl chr11:67,491,760...67,506,263 		JBrowse link
G POLA2 DNA polymerase alpha 2, accessory subunit IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,261,962...65,305,985
Ensembl chr11:65,261,913...65,305,959 		JBrowse link
G POLD4 DNA polymerase delta 4, accessory subunit IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,350,765...67,353,596
Ensembl chr11:67,350,772...67,356,972 		JBrowse link
G PPP1CA protein phosphatase 1 catalytic subunit alpha IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,398,183...67,401,858
Ensembl chr11:67,398,181...67,421,183 		JBrowse link
G PPP6R3 protein phosphatase 6 regulatory subunit 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,460,752...68,615,334
Ensembl chr11:68,460,731...68,615,334 		JBrowse link
G PTPRCAP protein tyrosine phosphatase receptor type C associated protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,435,510...67,437,682
Ensembl chr11:67,435,510...67,437,682 		JBrowse link
G RAB1B RAB1B, member RAS oncogene family IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,268,639...66,277,492
Ensembl chr11:66,268,590...66,277,492 		JBrowse link
G RAD9A RAD9 checkpoint clamp component A IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,391,986...67,398,412
Ensembl chr11:67,317,871...67,398,410 		JBrowse link
G RBM14 RNA binding motif protein 14 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,616,630...66,629,934
Ensembl chr11:66,616,626...66,629,934 		JBrowse link
G RBM14-RBM4 RBM14-RBM4 readthrough IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,616,630...66,646,468
Ensembl chr11:66,616,626...66,646,469 		JBrowse link
G RBM4 RNA binding motif protein 4 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,638,703...66,668,380
Ensembl chr11:66,638,667...66,668,374 		JBrowse link
G RBM4B RNA binding motif protein 4B IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,664,998...66,677,887
Ensembl chr11:66,664,998...66,677,887 		JBrowse link
G RCE1 Ras converting CAAX endopeptidase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,843,441...66,846,552
Ensembl chr11:66,842,835...66,846,552 		JBrowse link
G RELA RELA proto-oncogene, NF-kB subunit IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,653,601...65,663,857
Ensembl chr11:65,653,599...65,663,090 		JBrowse link
G RHOD ras homolog family member D IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,056,847...67,072,017
Ensembl chr11:67,056,847...67,072,017 		JBrowse link
G RIN1 Ras and Rab interactor 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,330,241...66,336,774
Ensembl chr11:66,330,241...66,336,840 		JBrowse link
G RNASEH2C ribonuclease H2 subunit C IAGP
EXP		 ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar Annotator: match by term: RNASEH2C-related condition
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chr11:65,717,673...65,720,798
Ensembl chr11:65,714,005...65,720,818 		JBrowse link
G RPS6KB2 ribosomal protein S6 kinase B2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,428,494...67,435,401
Ensembl chr11:67,428,460...67,435,401 		JBrowse link
G SART1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,961,734...65,980,137
Ensembl chr11:65,961,728...65,980,137 		JBrowse link
G SCYL1 SCY1 like pseudokinase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,525,083...65,538,704
Ensembl chr11:65,525,077...65,538,704 		JBrowse link
G SF3B2 splicing factor 3b subunit 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,052,364...66,069,308
Ensembl chr11:66,050,729...66,069,308 		JBrowse link
G SIPA1 signal-induced proliferation-associated 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,638,101...65,650,912
Ensembl chr11:65,638,101...65,650,918 		JBrowse link
G SLC25A45 solute carrier family 25 member 45 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,375,192...65,383,701
Ensembl chr11:65,375,192...65,383,701 		JBrowse link
G SLC29A2 solute carrier family 29 member 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,362,521...66,372,446
Ensembl chr11:66,362,521...66,372,214 		JBrowse link
G SNX32 sorting nexin 32 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,833,963...65,853,701
Ensembl chr11:65,833,834...65,856,896 		JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,682,497...66,744,682
Ensembl chr11:66,682,496...66,744,670 		JBrowse link
G SSH3 slingshot protein phosphatase 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,303,530...67,312,592
Ensembl chr11:67,303,478...67,312,607 		JBrowse link
G SYT12 synaptotagmin 12 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,006,771...67,050,863
Ensembl chr11:67,006,778...67,050,863 		JBrowse link
G TBC1D10C TBC1 domain family member 10C IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,403,913...67,410,090
Ensembl chr11:67,403,915...67,410,089 		JBrowse link
G TBX10 T-box transcription factor 10 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,631,303...67,641,754
Ensembl chr11:67,631,303...67,639,763 		JBrowse link
G TCIRG1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,039,025...68,053,762
Ensembl chr11:68,039,025...68,050,895 		JBrowse link
G TESMIN testis expressed metallothionein like protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:68,704,796...68,751,520
Ensembl chr11:68,707,440...68,751,520 		JBrowse link
G TIGD3 tigger transposable element derived 3 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,354,751...65,357,613
Ensembl chr11:65,354,751...65,357,613 		JBrowse link
G TMEM134 transmembrane protein 134 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,461,710...67,469,251
Ensembl chr11:67,461,710...67,469,272 		JBrowse link
G TMEM151A transmembrane protein 151A IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,291,894...66,296,664
Ensembl chr11:66,291,894...66,296,664 		JBrowse link
G TOP6BL TOP6B like initiator of meiotic double strand breaks IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,744,769...66,843,516
Ensembl chr11:66,744,451...66,843,516 		JBrowse link
G TPCN2 two pore segment channel 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:69,048,932...69,090,597
Ensembl chr11:69,048,932...69,136,316 		JBrowse link
G TSGA10IP testis specific 10 interacting protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:65,945,480...65,959,966
Ensembl chr11:65,945,480...65,959,966 		JBrowse link
G UNC93B1 unc-93 homolog B1, TLR signaling regulator IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:67,991,100...68,004,097
Ensembl chr11:67,991,100...68,004,982 		JBrowse link
G YIF1A Yip1 interacting factor homolog A, membrane trafficking protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,284,580...66,289,143
Ensembl chr11:66,284,572...66,289,184 		JBrowse link
G ZDHHC24 zinc finger DHHC-type containing 24 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr11:66,520,625...66,546,048
Ensembl chr11:66,520,637...66,546,235 		JBrowse link
G ZNRD2 zinc ribbon domain containing 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr11:65,570,477...65,571,888
Ensembl chr11:65,570,460...65,573,942 		JBrowse link
Aicardi-Goutieres Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BEST2 bestrophin 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,751,791...12,758,458
Ensembl chr19:12,751,702...12,758,458 		JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:13,206,442...13,506,479
Ensembl chr19:13,206,442...13,624,489 		JBrowse link
G CALR calreticulin IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,938,609...12,944,489
Ensembl chr19:12,938,578...12,944,489 		JBrowse link
G DAND5 DAN domain BMP antagonist family member 5 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,969,576...12,974,760
Ensembl chr19:12,965,159...12,974,760 		JBrowse link
G DHPS deoxyhypusine synthase IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,672,470...12,681,880
Ensembl chr19:12,675,717...12,681,880 		JBrowse link
G DNASE2 deoxyribonuclease 2, lysosomal IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,875,209...12,881,449
Ensembl chr19:12,875,209...12,881,595 		JBrowse link
G FARSA phenylalanyl-tRNA synthetase subunit alpha IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,922,479...12,933,711
Ensembl chr19:12,922,479...12,934,037 		JBrowse link
G FBXW9 F-box and WD repeat domain containing 9 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,688,916...12,696,631
Ensembl chr19:12,688,053...12,696,631 		JBrowse link
G GADD45GIP1 GADD45G interacting protein 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,953,119...12,957,223
Ensembl chr19:12,953,119...12,957,223 		JBrowse link
G GCDH glutaryl-CoA dehydrogenase IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,891,129...12,899,999
Ensembl chr19:12,891,128...12,915,126 		JBrowse link
G GET3 guided entry of tail-anchored proteins factor 3, ATPase IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,737,106...12,748,323
Ensembl chr19:12,737,139...12,748,323 		JBrowse link
G HOOK2 hook microtubule tethering protein 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,763,003...12,792,350
Ensembl chr19:12,763,003...12,872,740 		JBrowse link
G IER2 immediate early response 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:13,150,411...13,154,911
Ensembl chr19:13,150,411...13,156,981 		JBrowse link
G JUNB JunB proto-oncogene, AP-1 transcription factor subunit IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,791,486...12,793,315
Ensembl chr19:12,791,486...12,793,315 		JBrowse link
G KLF1 KLF transcription factor 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,884,422...12,887,201
Ensembl chr19:12,884,422...12,887,201 		JBrowse link
G LOC117038795 CRISPRi-FlowFISH-validated PRDX2 regulatory element 4 IAGP 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		 ClinVar PMID:9536098 PMID:15870678 PMID:16199547 PMID:16845400 PMID:17576681 More... NCBI chr19:12,805,831...12,806,863 JBrowse link
G LYL1 LYL1 basic helix-loop-helix family member IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:13,099,033...13,102,858
Ensembl chr19:13,099,033...13,103,161 		JBrowse link
G MAN2B1 mannosidase alpha class 2B member 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,646,512...12,666,742
Ensembl chr19:12,643,831...12,666,742 		JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,838,515...12,874,952
Ensembl chr19:12,833,951...12,874,952 		JBrowse link
G NACC1 nucleus accumbens associated 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:13,116,852...13,141,147
Ensembl chr19:13,116,862...13,141,147 		JBrowse link
G NFIX nuclear factor I X IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,995,475...13,098,796
Ensembl chr19:12,995,475...13,098,796 		JBrowse link
G PRDX2 peroxiredoxin 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,796,823...12,801,800
Ensembl chr19:12,796,820...12,801,800 		JBrowse link
G RAD23A RAD23 homolog A, nucleotide excision repair protein IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,945,862...12,953,642
Ensembl chr19:12,945,855...12,953,642 		JBrowse link
G RNASEH2A ribonuclease H2 subunit A IAGP
EXP		 ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4
ClinVar Annotator: match by term: RNASEH2A-related condition
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:10371528 PMID:10699052 PMID:11854167 PMID:15870678 More... NCBI chr19:12,806,584...12,813,640
Ensembl chr19:12,806,584...12,813,640 		JBrowse link
G RTBDN retbindin IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,825,482...12,835,428
Ensembl chr19:12,825,478...12,835,428 		JBrowse link
G STX10 syntaxin 10 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:13,144,058...13,150,375
Ensembl chr19:13,144,058...13,150,383 		JBrowse link
G SYCE2 synaptonemal complex central element protein 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,898,786...12,919,293
Ensembl chr19:12,898,786...12,919,293 		JBrowse link
G TNPO2 transportin 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,699,201...12,723,932
Ensembl chr19:12,699,201...12,724,011 		JBrowse link
G TRIR telomerase RNA component interacting RNase IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,730,640...12,734,684
Ensembl chr19:12,730,640...12,734,684 		JBrowse link
G TRMT1 tRNA methyltransferase 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:13,104,907...13,116,740
Ensembl chr19:13,104,902...13,117,567 		JBrowse link
G WDR83 WD repeat domain 83 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,666,807...12,675,832
Ensembl chr19:12,666,802...12,675,832 		JBrowse link
G WDR83OS WD repeat domain 83 opposite strand IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr19:12,668,073...12,669,415
Ensembl chr19:12,668,073...12,669,415 		JBrowse link
Aicardi-Goutieres Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G BLCAP BLCAP apoptosis inducing factor IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:37,517,417...37,527,876
Ensembl chr20:37,492,472...37,527,931 		JBrowse link
G CTNNBL1 catenin beta like 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:37,694,030...37,872,118
Ensembl chr20:37,694,030...37,872,129 		JBrowse link
G GHRH growth hormone releasing hormone IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:37,251,086...37,261,814
Ensembl chr20:37,251,086...37,261,819 		JBrowse link
G LOC130065805 ATAC-STARR-seq lymphoblastoid silent region 12883 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:20653736 PMID:21102625 PMID:24183309 PMID:25741868 PMID:28492532 NCBI chr20:36,951,203...36,951,422 JBrowse link
G MANBAL mannosidase beta like IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:37,289,655...37,317,260
Ensembl chr20:37,289,649...37,317,260 		JBrowse link
G MROH8 maestro heat like repeat family member 8 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:37,101,167...37,179,548
Ensembl chr20:37,101,226...37,179,588 		JBrowse link
G NNAT neuronatin IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:37,521,250...37,523,690
Ensembl chr20:37,521,206...37,523,690 		JBrowse link
G RBL1 RB transcriptional corepressor like 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:36,996,349...37,095,997
Ensembl chr20:36,996,349...37,095,997 		JBrowse link
G RPN2 ribophorin II IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:37,179,330...37,241,619
Ensembl chr20:37,178,410...37,241,619 		JBrowse link
G SAMHD1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 IAGP
EXP		 ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chr20:36,889,773...36,951,708
Ensembl chr20:36,890,229...36,951,893 		JBrowse link
G SRC SRC proto-oncogene, non-receptor tyrosine kinase IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr20:37,344,699...37,406,050
Ensembl chr20:37,344,685...37,406,050 		JBrowse link
G TLDC2 TBC/LysM-associated domain containing 2 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr20:36,876,121...36,894,235
Ensembl chr20:36,876,121...36,894,235 		JBrowse link
Aicardi-Goutieres Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 ClinVar
OMIM		 PMID:9536098 PMID:9889202 PMID:15146470 PMID:15489923 PMID:15955093 More... NCBI chr 1:154,582,057...154,627,997
Ensembl chr 1:154,581,695...154,628,013 		JBrowse link
G LOC126805874 CDK7 strongly-dependent group 2 enhancer GRCh37_chr1:154561176-154562375 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 ClinVar PMID:23001123 PMID:25741868 PMID:28492532 PMID:32996714 NCBI chr 1:154,588,700...154,589,899 JBrowse link
G LOC129931512 ATAC-STARR-seq lymphoblastoid silent region 1364 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 ClinVar PMID:25741868 PMID:28492532 PMID:29221912 NCBI chr 1:154,607,960...154,608,069 JBrowse link
Aicardi-Goutieres Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFIH1 interferon induced with helicase C domain 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7
ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 | ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7		 ClinVar
OMIM		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19264985 PMID:19324880 More... NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
Aicardi-Goutieres Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LSM11 LSM11, U7 small nuclear RNA associated IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 OMIM
ClinVar		 PMID:33230297 NCBI chr 5:157,743,712...157,760,709
Ensembl chr 5:157,743,712...157,760,709 		JBrowse link
Aicardi-Goutieres Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C12orf57 chromosome 12 open reading frame 57 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 ClinVar PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297 NCBI chr12:6,943,433...6,946,003
Ensembl chr12:6,942,978...6,946,003 		JBrowse link
G RNU7-1 RNA, U7 small nuclear 1 IAGP ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 OMIM
ClinVar		 PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297 NCBI chr12:6,943,816...6,943,878
Ensembl chr12:6,943,816...6,943,878 		JBrowse link
Idiopathic Basal Ganglia Calcification 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CHRNA6 cholinergic receptor nicotinic alpha 6 subunit IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:42,752,620...42,768,786
Ensembl chr 8:42,752,620...42,796,392 		JBrowse link
G CHRNB3 cholinergic receptor nicotinic beta 3 subunit IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:42,697,366...42,737,407
Ensembl chr 8:42,697,366...42,737,407 		JBrowse link
G DUOX2 dual oxidase 2 IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar NCBI chr15:45,092,650...45,114,172
Ensembl chr15:45,092,650...45,114,172 		JBrowse link
G FNTA farnesyltransferase, CAAX box, subunit alpha IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:43,056,323...43,085,785
Ensembl chr 8:43,034,194...43,085,788 		JBrowse link
G HOOK3 hook microtubule tethering protein 3 IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:42,896,978...43,030,535
Ensembl chr 8:42,896,946...43,030,535 		JBrowse link
G LOC130000303 ATAC-STARR-seq lymphoblastoid silent region 19157 IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:25741868 NCBI chr 8:42,541,586...42,542,005 JBrowse link
G PDGFB platelet derived growth factor subunit B EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1		 CTD
ClinVar		 PMID:23913003 PMID:25741868 NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
G PDGFRB platelet derived growth factor receptor beta EXP
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 3		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
G RNF170 ring finger protein 170 IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:42,849,637...42,897,299
Ensembl chr 8:42,849,637...42,897,290 		JBrowse link
G SLC20A2 solute carrier family 20 member 2 IAGP
EXP		 ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
ClinVar Annotator: match by term: SLC20A2-related condition
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 | ClinVar Annotator: match by term: SLC20A2-related condition
ClinVar Annotator: match by term: Ferrocalcinosis, cerebrovascular
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:10441584 PMID:11344012 PMID:11810290 PMID:15596772 PMID:16199547 More... NCBI chr 8:42,416,475...42,541,954
Ensembl chr 8:42,416,475...42,541,926 		JBrowse link
G SMIM19 small integral membrane protein 19 IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:25741868 PMID:27726124 NCBI chr 8:42,541,148...42,555,195
Ensembl chr 8:42,541,155...42,555,195 		JBrowse link
G THAP1 THAP domain containing 1 IAGP ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:42,836,674...42,843,325
Ensembl chr 8:42,836,674...42,843,325 		JBrowse link
Idiopathic Basal Ganglia Calcification 10 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CMPK2 cytidine/uridine monophosphate kinase 2 IAGP ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 10, AUTOSOMAL RECESSIVE OMIM
ClinVar		 PMID:36443312 NCBI chr 2:6,840,553...6,866,635
Ensembl chr 2:6,840,570...6,866,635 		JBrowse link
Idiopathic Basal Ganglia Calcification 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDGFRB platelet derived growth factor receptor beta IAGP ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 4 OMIM
ClinVar		 PMID:9536098 PMID:15054839 PMID:16199547 PMID:17576681 PMID:20301594 More... NCBI chr 5:150,113,839...150,155,845
Ensembl chr 5:150,113,839...150,155,872 		JBrowse link
Idiopathic Basal Ganglia Calcification 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDGFB platelet derived growth factor subunit B IAGP ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 5 ClinVar
OMIM		 PMID:20301594 PMID:21409505 PMID:23913003 PMID:25211641 PMID:25741868 More... NCBI chr22:39,223,359...39,244,982
Ensembl chr22:39,223,359...39,244,982 		JBrowse link
Idiopathic Basal Ganglia Calcification 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G XPR1 xenotropic and polytropic retrovirus receptor 1 IAGP ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6
ClinVar Annotator: match by term: XPR1-related condition
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 | ClinVar Annotator: match by term: XPR1-related primary familial brain calcification		 ClinVar
OMIM		 PMID:886353 PMID:25741868 PMID:25938945 PMID:28492532 PMID:31003906 NCBI chr 1:180,632,022...180,890,279
Ensembl chr 1:180,632,022...180,890,279 		JBrowse link
Idiopathic Basal Ganglia Calcification 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G MYORG myogenesis regulating glycosidase IAGP ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 7, autosomal recessive
ClinVar Annotator: match by term: MYORG-related condition
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 7, autosomal recessive | ClinVar Annotator: match by term: MYORG-related condition		 ClinVar
OMIM		 PMID:25741868 PMID:28492532 PMID:29910000 PMID:30460687 PMID:30589467 More... NCBI chr 9:34,366,666...34,376,898
Ensembl chr 9:34,366,666...34,376,898 		JBrowse link
Idiopathic Basal Ganglia Calcification 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G JAM2 junctional adhesion molecule 2 IAGP ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 8, autosomal recessive
ClinVar Annotator: match by term: JAM2-related condition		 OMIM
ClinVar		 PMID:25741868 PMID:26136916 PMID:31851307 PMID:32142645 NCBI chr21:25,639,258...25,717,562
Ensembl chr21:25,639,258...25,717,562 		JBrowse link
Idiopathic Basal Ganglia Calcification 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NAA60 N-alpha-acetyltransferase 60, NatF catalytic subunit IAGP ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 9, autosomal recessive ClinVar
OMIM		 PMID:38480682 NCBI chr16:3,443,611...3,486,963
Ensembl chr16:3,443,649...3,486,953 		JBrowse link
Idiopathic Basal Ganglia Calcification, Childhood Onset term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFIH1 interferon induced with helicase C domain 1 IAGP ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, childhood-onset | ClinVar Annotator: match by term: Cerebral calcification nonarteriosclerotic idiopathic childhood-onset ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:162,267,074...162,318,684
Ensembl chr 2:162,267,074...162,318,684 		JBrowse link
immunodeficiency 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ACAP3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,292,391...1,307,930
Ensembl chr 1:1,292,390...1,309,609 		JBrowse link
G ACTRT2 actin related protein T2 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,021,467...3,022,903
Ensembl chr 1:3,021,467...3,022,903 		JBrowse link
G AGRN agrin IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,020,120...1,056,116
Ensembl chr 1:1,020,120...1,056,119 		JBrowse link
G ANKRD65 ankyrin repeat domain 65 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,418,420...1,421,276
Ensembl chr 1:1,418,420...1,421,769 		JBrowse link
G ARHGEF16 Rho guanine nucleotide exchange factor 16 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,454,665...3,481,113
Ensembl chr 1:3,454,665...3,481,113 		JBrowse link
G ATAD3A ATPase family AAA domain containing 3A IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,512,162...1,534,685
Ensembl chr 1:1,512,162...1,534,685 		JBrowse link
G ATAD3B ATPase family AAA domain containing 3B IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,471,765...1,509,466
Ensembl chr 1:1,471,765...1,497,848 		JBrowse link
G ATAD3C ATPase family AAA domain containing 3C IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,449,689...1,470,163
Ensembl chr 1:1,449,689...1,470,163 		JBrowse link
G AURKAIP1 aurora kinase A interacting protein 1 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,373,736...1,375,207
Ensembl chr 1:1,373,730...1,375,207 		JBrowse link
G B3GALT6 beta-1,3-galactosyltransferase 6 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,232,237...1,235,041
Ensembl chr 1:1,232,237...1,235,041 		JBrowse link
G C1orf159 chromosome 1 open reading frame 159 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,081,823...1,116,089
Ensembl chr 1:1,081,818...1,116,361 		JBrowse link
G C1QTNF12 C1q and TNF related 12 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,242,453...1,247,280
Ensembl chr 1:1,242,446...1,246,722 		JBrowse link
G CALML6 calmodulin like 6 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,915,260...1,917,296
Ensembl chr 1:1,915,108...1,917,296 		JBrowse link
G CCDC27 coiled-coil domain containing 27 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,752,450...3,771,645
Ensembl chr 1:3,746,460...3,771,645 		JBrowse link
G CCNL2 cyclin L2 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,385,711...1,399,335
Ensembl chr 1:1,385,711...1,399,335 		JBrowse link
G CDK11A cyclin dependent kinase 11A IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,702,379...1,724,357
Ensembl chr 1:1,702,379...1,724,357 		JBrowse link
G CDK11B cyclin dependent kinase 11B IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,635,225...1,659,004
Ensembl chr 1:1,635,225...1,659,012 		JBrowse link
G CEP104 centrosomal protein 104 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,812,086...3,857,211
Ensembl chr 1:3,812,086...3,857,396 		JBrowse link
G CFAP74 cilia and flagella associated protein 74 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,921,957...2,003,786
Ensembl chr 1:1,921,951...2,003,837 		JBrowse link
G CPTP ceramide-1-phosphate transfer protein IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,324,802...1,328,896
Ensembl chr 1:1,324,756...1,328,896 		JBrowse link
G DVL1 dishevelled segment polarity protein 1 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,335,278...1,349,418
Ensembl chr 1:1,335,276...1,349,418 		JBrowse link
G FAAP20 FA core complex associated protein 20 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,184,477...2,212,720
Ensembl chr 1:2,184,461...2,212,720 		JBrowse link
G FNDC10 fibronectin type III domain containing 10 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,598,012...1,600,135
Ensembl chr 1:1,598,012...1,600,135 		JBrowse link
G GABRD gamma-aminobutyric acid type A receptor subunit delta IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,019,345...2,030,758
Ensembl chr 1:2,019,329...2,030,758 		JBrowse link
G GNB1 G protein subunit beta 1 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,785,286...1,891,087
Ensembl chr 1:1,785,285...1,892,292 		JBrowse link
G HES4 hes family bHLH transcription factor 4 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:998,964...1,000,097
Ensembl chr 1:998,962...1,000,172 		JBrowse link
G HES5 hes family bHLH transcription factor 5 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,528,745...2,530,263
Ensembl chr 1:2,528,745...2,530,263 		JBrowse link
G INTS11 integrator complex subunit 11 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,311,600...1,324,660
Ensembl chr 1:1,311,585...1,324,687 		JBrowse link
G ISG15 ISG15 ubiquitin like modifier IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar
OMIM		 PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:19492091 More... NCBI chr 1:1,013,497...1,014,540
Ensembl chr 1:1,001,138...1,014,540 		JBrowse link
G KLHL17 kelch like family member 17 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:960,584...965,719
Ensembl chr 1:960,584...965,719 		JBrowse link
G LRRC47 leucine rich repeat containing 47 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,778,559...3,796,498
Ensembl chr 1:3,778,559...3,796,498 		JBrowse link
G MEGF6 multiple EGF like domains 6 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,487,951...3,624,786
Ensembl chr 1:3,487,951...3,611,508 		JBrowse link
G MIB2 MIB E3 ubiquitin protein ligase 2 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,613,731...1,630,605
Ensembl chr 1:1,615,454...1,630,605 		JBrowse link
G MIR200A microRNA 200a IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,167,863...1,167,952
Ensembl chr 1:1,167,863...1,167,952 		JBrowse link
G MIR200B microRNA 200b IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,167,104...1,167,198
Ensembl chr 1:1,167,104...1,167,198 		JBrowse link
G MIR429 microRNA 429 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,169,005...1,169,087
Ensembl chr 1:1,169,005...1,169,087 		JBrowse link
G MIR551A microRNA 551a IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,560,695...3,560,790
Ensembl chr 1:3,560,695...3,560,790 		JBrowse link
G MMEL1 membrane metalloendopeptidase like 1 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,590,639...2,633,016
Ensembl chr 1:2,590,639...2,633,016 		JBrowse link
G MMP23B matrix metallopeptidase 23B IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,632,173...1,634,654
Ensembl chr 1:1,632,163...1,635,263 		JBrowse link
G MORN1 MORN repeat containing 1 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,321,253...2,391,554
Ensembl chr 1:2,321,253...2,391,707 		JBrowse link
G MRPL20 mitochondrial ribosomal protein L20 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,401,909...1,407,293
Ensembl chr 1:1,401,909...1,407,293 		JBrowse link
G MXRA8 matrix remodeling associated 8 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,352,689...1,363,541
Ensembl chr 1:1,352,689...1,361,777 		JBrowse link
G NADK NAD kinase IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,751,232...1,780,514
Ensembl chr 1:1,751,232...1,780,457 		JBrowse link
G NOC2L NOC2 like nucleolar associated transcriptional repressor IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:944,203...959,256
Ensembl chr 1:944,203...959,309 		JBrowse link
G PANK4 pantothenate kinase 4 (inactive) IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,508,537...2,526,596
Ensembl chr 1:2,508,537...2,526,597 		JBrowse link
G PEX10 peroxisomal biogenesis factor 10 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,403,974...2,413,827
Ensembl chr 1:2,403,964...2,413,797 		JBrowse link
G PLCH2 phospholipase C eta 2 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,415,943...2,505,532
Ensembl chr 1:2,425,980...2,505,532 		JBrowse link
G PLEKHN1 pleckstrin homology domain containing N1 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:966,482...975,865
Ensembl chr 1:966,482...975,865 		JBrowse link
G PRDM16 PR/SET domain 16 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,069,203...3,438,621
Ensembl chr 1:3,069,168...3,438,621 		JBrowse link
G PRKCZ protein kinase C zeta IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,048,504...2,185,395
Ensembl chr 1:2,050,411...2,185,395 		JBrowse link
G PRXL2B peroxiredoxin like 2B IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,586,523...2,591,468
Ensembl chr 1:2,586,491...2,591,469 		JBrowse link
G PUSL1 pseudouridine synthase like 1 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,308,597...1,311,677
Ensembl chr 1:1,308,597...1,311,677 		JBrowse link
G RER1 retention in endoplasmic reticulum sorting receptor 1 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,391,841...2,405,436
Ensembl chr 1:2,391,775...2,405,442 		JBrowse link
G RNF223 ring finger protein 223 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,070,967...1,074,306
Ensembl chr 1:1,070,967...1,074,306 		JBrowse link
G SAMD11 sterile alpha motif domain containing 11 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:923,923...944,574
Ensembl chr 1:923,923...944,575 		JBrowse link
G SCNN1D sodium channel epithelial 1 subunit delta IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,280,436...1,292,025
Ensembl chr 1:1,280,436...1,292,029 		JBrowse link
G SDF4 stromal cell derived factor 4 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,216,931...1,232,001
Ensembl chr 1:1,216,931...1,232,031 		JBrowse link
G SKI SKI proto-oncogene IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,228,319...2,310,213
Ensembl chr 1:2,227,388...2,310,213 		JBrowse link
G SLC35E2A solute carrier family 35 member E2A (pseudogene) IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,727,385...1,746,070
Ensembl chr 1:1,734,690...1,739,557 		JBrowse link
G SLC35E2B solute carrier family 35 member E2B IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,661,478...1,692,795
Ensembl chr 1:1,659,529...1,692,795 		JBrowse link
G SMIM1 small integral membrane protein 1 (Vel blood group) IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,772,749...3,775,956
Ensembl chr 1:3,772,749...3,775,982 		JBrowse link
G SSU72 SSU72 homolog, RNA polymerase II CTD phosphatase IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,541,673...1,574,863
Ensembl chr 1:1,541,673...1,574,863 		JBrowse link
G TAS1R3 taste 1 receptor member 3 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,331,280...1,335,314
Ensembl chr 1:1,331,280...1,335,314 		JBrowse link
G TMEM240 transmembrane protein 240 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,534,778...1,540,624
Ensembl chr 1:1,534,778...1,540,624 		JBrowse link
G TMEM52 transmembrane protein 52 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,917,591...1,919,279
Ensembl chr 1:1,917,590...1,919,279 		JBrowse link
G TMEM88B transmembrane protein 88B IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,425,871...1,430,255
Ensembl chr 1:1,425,871...1,430,255 		JBrowse link
G TNFRSF14 TNF receptor superfamily member 14 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,554,234...2,563,829
Ensembl chr 1:2,555,639...2,565,382 		JBrowse link
G TNFRSF18 TNF receptor superfamily member 18 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,203,508...1,206,592
Ensembl chr 1:1,203,508...1,206,592 		JBrowse link
G TNFRSF4 TNF receptor superfamily member 4 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,211,340...1,214,153
Ensembl chr 1:1,211,326...1,214,153 		JBrowse link
G TP73 tumor protein p73 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,652,516...3,736,201
Ensembl chr 1:3,652,516...3,736,201 		JBrowse link
G TPRG1L tumor protein p63 regulated 1 like IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,625,015...3,630,127
Ensembl chr 1:3,625,015...3,630,127 		JBrowse link
G TTC34 tetratricopeptide repeat domain 34 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:2,636,986...2,801,693
Ensembl chr 1:2,636,986...2,801,693 		JBrowse link
G TTLL10 tubulin tyrosine ligase like 10 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,173,880...1,197,936
Ensembl chr 1:1,173,880...1,197,936 		JBrowse link
G UBE2J2 ubiquitin conjugating enzyme E2 J2 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,253,912...1,273,854
Ensembl chr 1:1,253,909...1,273,864 		JBrowse link
G VWA1 von Willebrand factor A domain containing 1 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:1,435,690...1,442,882
Ensembl chr 1:1,434,861...1,442,882 		JBrowse link
G WRAP73 WD repeat containing, antisense to TP73 IAGP ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 1:3,630,770...3,650,103
Ensembl chr 1:3,630,767...3,652,761 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 121159
    Nutritional and Metabolic Diseases 20281
      disease of metabolism 20281
        mineral metabolism disease 1919
          calcium metabolism disease 1511
            calcinosis 1418
              basal ganglia calcification 344
                Aicardi-Goutieres syndrome + 251
                Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 0
                Idiopathic Basal Ganglia Calcification 1 12
                Idiopathic Basal Ganglia Calcification 10 1
                Idiopathic Basal Ganglia Calcification 4 1
                Idiopathic Basal Ganglia Calcification 5 1
                Idiopathic Basal Ganglia Calcification 6 1
                Idiopathic Basal Ganglia Calcification 7 1
                Idiopathic Basal Ganglia Calcification 8 1
                Idiopathic Basal Ganglia Calcification 9 1
                Idiopathic Basal Ganglia Calcification, Childhood Onset 1
                immunodeficiency 38 76
Path 2
Term Annotations click to browse term
  disease 121159
    Nutritional and Metabolic Diseases 20281
      disease of metabolism 20281
        acquired metabolic disease 9116
          mineral metabolism disease 1919
            calcium metabolism disease 1511
              calcinosis 1418
                basal ganglia calcification 344
                  Aicardi-Goutieres syndrome + 251
                  Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 0
                  Idiopathic Basal Ganglia Calcification 1 12
                  Idiopathic Basal Ganglia Calcification 10 1
                  Idiopathic Basal Ganglia Calcification 4 1
                  Idiopathic Basal Ganglia Calcification 5 1
                  Idiopathic Basal Ganglia Calcification 6 1
                  Idiopathic Basal Ganglia Calcification 7 1
                  Idiopathic Basal Ganglia Calcification 8 1
                  Idiopathic Basal Ganglia Calcification 9 1
                  Idiopathic Basal Ganglia Calcification, Childhood Onset 1
                  immunodeficiency 38 76
paths to the root