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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: NCI:C129973;   OMIM:PS213600


show annotations for term's descendants           Sort by:
basal ganglia calcification term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfrb platelet derived growth factor receptor, beta polypeptide IAGP OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133 		JBrowse link
G Slc20a2 solute carrier family 20, member 2 IAGP OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr 8:22,966,771...23,059,632
Ensembl chr 8:22,966,804...23,059,628 		JBrowse link
Aicardi-Goutieres syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846
DNA:mutations:exons:		 CTD
ClinVar
MouseDO
RGD		 PMID:9889202 PMID:19060901 PMID:20301648 PMID:23001123 PMID:24033266 More... RGD:11069491 NCBI chr 3:89,622,321...89,660,756
Ensembl chr 3:89,622,329...89,660,753 		JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME ClinVar PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chr 9:108,888,815...108,903,192
Ensembl chr 9:108,887,001...108,903,192 		JBrowse link
G Gm53191 predicted gene, 53191 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME ClinVar PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chr 9:108,887,001...108,903,165
Ensembl chr 9:108,887,001...108,903,192 		JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome		 CTD
ClinVar		 PMID:24686847 PMID:25741868 NCBI chr 2:62,426,137...62,476,599
Ensembl chr 2:62,426,142...62,476,599 		JBrowse link
G Kat5 K(lysine) acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chr19:5,653,042...5,661,584
Ensembl chr19:5,653,042...5,660,265 		JBrowse link
G Rnaseh2a ribonuclease H2, large subunit ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:17846997 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 More... NCBI chr 8:85,683,239...85,694,498
Ensembl chr 8:85,683,239...85,696,396 		JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO 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 chr14:62,569,517...62,610,445
Ensembl chr14:62,530,038...62,610,441 		JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9536098 PMID:16845400 PMID:17576681 PMID:17846997 PMID:19015152 More... NCBI chr19:5,651,901...5,652,987
Ensembl chr19:5,651,901...5,657,047 		JBrowse link
G Samhd1 SAM domain and HD domain, 1 ISO 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 chr 2:156,939,454...156,977,016
Ensembl chr 2:156,939,453...156,977,185 		JBrowse link
G Tldc2 TBC/LysM associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:28492532 NCBI chr 2:156,918,542...156,938,868
Ensembl chr 2:156,928,975...156,938,402 		JBrowse link
G Trex1 three prime repair exonuclease 1 ISO
IAGP		 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
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 9:108,887,000...108,888,791
Ensembl chr 9:108,887,001...108,888,802 		JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 6:121,222,865...121,247,876
Ensembl chr 6:121,222,865...121,247,876 		JBrowse link
Aicardi-Goutieres Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1700102P08Rik RIKEN cDNA 1700102P08 gene ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,270,023...108,275,416
Ensembl chr 9:108,270,004...108,288,133 		JBrowse link
G Amigo3 adhesion molecule with Ig like domain 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:107,930,358...107,932,900
Ensembl chr 9:107,930,358...107,932,900 		JBrowse link
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,174,104...108,179,501
Ensembl chr 9:108,174,052...108,179,501 		JBrowse link
G Apeh acylpeptide hydrolase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:107,962,613...107,971,736
Ensembl chr 9:107,962,612...107,971,805 		JBrowse link
G Arih2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,480,141...108,531,917
Ensembl chr 9:108,480,141...108,526,585 		JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More... NCBI chr 9:108,888,815...108,903,192
Ensembl chr 9:108,887,001...108,903,192 		JBrowse link
G BC048562 cDNA sequence BC048562 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,313,681...108,323,282
Ensembl chr 9:108,313,681...108,323,285 		JBrowse link
G Bsn bassoon ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:107,973,221...108,067,618
Ensembl chr 9:107,973,221...108,067,583 		JBrowse link
G Camkv CaM kinase-like vesicle-associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:107,813,097...107,826,882
Ensembl chr 9:107,812,873...107,826,890 		JBrowse link
G Ccdc71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,329,701...108,343,145
Ensembl chr 9:108,337,726...108,343,137 		JBrowse link
G Cdhr4 cadherin-related family member 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:107,869,656...107,876,880
Ensembl chr 9:107,869,696...107,876,883 		JBrowse link
G Celsr3 cadherin, EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,703,244...108,730,168
Ensembl chr 9:108,703,519...108,730,168 		JBrowse link
G Col7a1 collagen, type VII, alpha 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,782,654...108,813,943
Ensembl chr 9:108,782,654...108,813,943 		JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,082,060...108,141,176
Ensembl chr 9:108,081,833...108,141,157 		JBrowse link
G Dalrd3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,444,710...108,449,972
Ensembl chr 9:108,447,085...108,449,973 		JBrowse link
G Gm53191 predicted gene, 53191 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More... NCBI chr 9:108,887,001...108,903,165
Ensembl chr 9:108,887,001...108,903,192 		JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:107,926,490...107,929,119
Ensembl chr 9:107,926,441...107,930,000 		JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:107,491,324...107,512,542
Ensembl chr 9:107,491,324...107,512,566 		JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:107,551,636...107,556,833
Ensembl chr 9:107,551,673...107,556,911 		JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,216,279...108,217,541
Ensembl chr 9:108,216,102...108,217,542 		JBrowse link
G Hyal1 hyaluronoglucosaminidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:107,454,149...107,458,898
Ensembl chr 9:107,454,126...107,458,909 		JBrowse link
G Hyal3 hyaluronoglucosaminidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:107,458,495...107,464,558
Ensembl chr 9:107,458,017...107,464,558 		JBrowse link
G Ifrd2 interferon-related developmental regulator 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:107,464,917...107,470,237
Ensembl chr 9:107,464,841...107,470,584 		JBrowse link
G Iho1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,280,691...108,309,040
Ensembl chr 9:108,280,810...108,305,683 		JBrowse link
G Impdh2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,437,635...108,442,776
Ensembl chr 9:108,437,485...108,442,783 		JBrowse link
G Inka1 inka box actin regulator 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:107,861,422...107,863,078
Ensembl chr 9:107,861,422...107,863,078 		JBrowse link
G Ip6k1 inositol hexaphosphate kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:107,879,847...107,925,981
Ensembl chr 9:107,879,700...107,925,981 		JBrowse link
G Ip6k2 inositol hexaphosphate kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,660,928...108,683,532
Ensembl chr 9:108,660,995...108,683,536 		JBrowse link
G Klhdc8b kelch domain containing 8B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,324,834...108,338,780
Ensembl chr 9:108,324,835...108,338,780 		JBrowse link
G Lamb2 laminin, beta 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,357,080...108,367,729
Ensembl chr 9:108,356,935...108,367,729 		JBrowse link
G Lsmem2 leucine-rich single-pass membrane protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:107,469,825...107,475,189
Ensembl chr 9:107,469,829...107,474,274 		JBrowse link
G Mir191 microRNA 191 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,445,518...108,445,591
Ensembl chr 9:108,445,518...108,445,591 		JBrowse link
G Mon1a MON1 homolog A, secretory traffciking associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:107,765,282...107,780,338
Ensembl chr 9:107,765,350...107,780,338 		JBrowse link
G Mst1 macrophage stimulating 1 (hepatocyte growth factor-like) ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:107,957,607...107,962,226
Ensembl chr 9:107,957,635...107,962,202 		JBrowse link
G Mst1r macrophage stimulating 1 receptor (c-met-related tyrosine kinase) ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:107,784,057...107,797,582
Ensembl chr 9:107,784,072...107,797,582 		JBrowse link
G Naa80 N(alpha)-acetyltransferase 80, NatH catalytic subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:107,457,868...107,461,247
Ensembl chr 9:107,456,086...107,461,249 		JBrowse link
G Nckipsd NCK interacting protein with SH3 domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,685,515...108,696,044
Ensembl chr 9:108,685,567...108,696,043 		JBrowse link
G Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,442,786...108,444,635
Ensembl chr 9:108,442,736...108,444,633 		JBrowse link
G Nicn1 nicolin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,167,642...108,173,697
Ensembl chr 9:108,167,628...108,173,697 		JBrowse link
G P4htm prolyl 4-hydroxylase, transmembrane (endoplasmic reticulum) ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,456,025...108,475,482
Ensembl chr 9:108,456,061...108,474,866 		JBrowse link
G Pfkfb4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,817,336...108,861,302
Ensembl chr 9:108,820,846...108,861,296 		JBrowse link
G Prkar2a protein kinase, cAMP dependent regulatory, type II alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,569,342...108,627,643
Ensembl chr 9:108,566,513...108,627,635 		JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,385,204...108,393,140
Ensembl chr 9:108,384,905...108,393,140 		JBrowse link
G Qrich1 glutamine-rich 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,394,010...108,437,366
Ensembl chr 9:108,394,005...108,437,362 		JBrowse link
G Rbm5 RNA binding motif protein 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:107,617,694...107,648,228
Ensembl chr 9:107,617,570...107,648,195 		JBrowse link
G Rbm6 RNA binding motif protein 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:107,650,758...107,751,028
Ensembl chr 9:107,650,758...107,750,436 		JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,183,359...108,215,142
Ensembl chr 9:108,183,328...108,215,133 		JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:25741868 NCBI chr14:62,569,517...62,610,445
Ensembl chr14:62,530,038...62,610,441 		JBrowse link
G Rnf123 ring finger protein 123 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:107,928,869...107,957,183
Ensembl chr 9:107,928,733...107,960,545 		JBrowse link
G Sema3b sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:107,474,868...107,486,440
Ensembl chr 9:107,474,873...107,486,428 		JBrowse link
G Sema3f sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:107,558,698...107,587,674
Ensembl chr 9:107,558,699...107,587,674 		JBrowse link
G Shisa5 shisa family member 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,867,635...108,886,860
Ensembl chr 9:108,867,633...108,886,845 		JBrowse link
G Slc25a20 solute carrier family 25 (mitochondrial carnitine/acylcarnitine translocase), member 20 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,539,335...108,561,841
Ensembl chr 9:108,539,287...108,561,840 		JBrowse link
G Slc26a6 solute carrier family 26, member 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,731,239...108,742,117
Ensembl chr 9:108,730,482...108,742,117 		JBrowse link
G Slc38a3 solute carrier family 38, member 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:107,528,353...107,546,167
Ensembl chr 9:107,527,833...107,546,729 		JBrowse link
G Tcta T cell leukemia translocation altered gene ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,180,157...108,183,174
Ensembl chr 9:108,180,157...108,183,359 		JBrowse link
G Tmem89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,743,687...108,744,631
Ensembl chr 9:108,743,687...108,744,631 		JBrowse link
G Traip TRAF-interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:107,828,158...107,849,469
Ensembl chr 9:107,827,335...107,849,469 		JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar
OMIM		 PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More... NCBI chr 9:108,887,000...108,888,791
Ensembl chr 9:108,887,001...108,888,802 		JBrowse link
G Uba7 ubiquitin-like modifier activating enzyme 7 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:107,852,766...107,861,255
Ensembl chr 9:107,852,704...107,861,259 		JBrowse link
G Ucn2 urocortin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,815,231...108,816,232
Ensembl chr 9:108,815,078...108,816,232 		JBrowse link
G Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,765,716...108,778,709
Ensembl chr 9:108,765,701...108,778,691 		JBrowse link
G Usp19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,367,806...108,379,536
Ensembl chr 9:108,367,801...108,379,536 		JBrowse link
G Usp4 ubiquitin specific peptidase 4 (proto-oncogene) ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,223,763...108,269,744
Ensembl chr 9:108,225,052...108,269,744 		JBrowse link
G Wdr6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 9:108,449,510...108,455,862
Ensembl chr 9:108,449,510...108,455,938 		JBrowse link
Aicardi-Goutieres Syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 | ClinVar Annotator: match by term: RNASEH2B-related condition OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chr14:62,569,517...62,610,445
Ensembl chr14:62,530,038...62,610,441 		JBrowse link
Aicardi-Goutieres Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 1810055G02Rik RIKEN cDNA 1810055G02 gene ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:3,758,343...3,767,882
Ensembl chr19:3,758,293...3,767,881 		JBrowse link
G 2010003K11Rik RIKEN cDNA 2010003K11 gene ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,546,816...4,548,611
Ensembl chr19:4,546,816...4,548,611 		JBrowse link
G Actn3 actinin alpha 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,911,244...4,927,937
Ensembl chr19:4,911,244...4,927,937 		JBrowse link
G Acy3 aminoacylase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,036,570...4,040,007
Ensembl chr19:4,036,570...4,040,007 		JBrowse link
G AI837181 expressed sequence AI837181 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,475,172...5,477,345
Ensembl chr19:5,475,172...5,477,341 		JBrowse link
G Aip aryl-hydrocarbon receptor-interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,163,756...4,177,233
Ensembl chr19:4,164,446...4,175,858 		JBrowse link
G Aldh3b1 aldehyde dehydrogenase 3 family, member B1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:3,963,491...3,980,898
Ensembl chr19:3,963,491...3,979,808 		JBrowse link
G Aldh3b3 aldehyde dehydrogenase 3 family, member B3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,008,733...4,022,419
Ensembl chr19:4,008,645...4,022,103 		JBrowse link
G Ankrd13d ankyrin repeat domain 13 family, member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,320,208...4,333,165
Ensembl chr19:4,320,208...4,333,165 		JBrowse link
G Ano1 anoctamin 1, calcium activated chloride channel ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 7:144,142,286...144,305,762
Ensembl chr 7:144,142,286...144,305,711 		JBrowse link
G Ap5b1 adaptor-related protein complex 5, beta 1 subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr19:5,610,278...5,621,290
Ensembl chr19:5,618,053...5,621,289 		JBrowse link
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,088,854...5,091,162
Ensembl chr19:5,088,854...5,091,159
Ensembl chr19:5,088,854...5,091,159 		JBrowse link
G Banf1 BAF nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,414,661...5,416,904
Ensembl chr19:5,414,666...5,417,196 		JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,936,906...4,956,681
Ensembl chr19:4,936,906...4,956,656 		JBrowse link
G Brms1 breast cancer metastasis-suppressor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,091,391...5,099,940
Ensembl chr19:5,091,382...5,099,945 		JBrowse link
G Cabp2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,131,469...4,137,340
Ensembl chr19:4,131,578...4,137,340 		JBrowse link
G Cabp4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,185,422...4,189,608
Ensembl chr19:4,185,422...4,194,032 		JBrowse link
G Capn1 calpain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:6,038,573...6,065,855
Ensembl chr19:6,038,573...6,065,927 		JBrowse link
G Carns1 carnosine synthase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,214,323...4,227,390
Ensembl chr19:4,214,323...4,225,478 		JBrowse link
G Catsper1 cation channel, sperm associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,385,643...5,394,309
Ensembl chr19:5,385,769...5,394,308 		JBrowse link
G Ccdc85b coiled-coil domain containing 85B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,503,191...5,507,591
Ensembl chr19:5,503,208...5,507,922 		JBrowse link
G Ccdc87 coiled-coil domain containing 87 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,889,394...4,892,556
Ensembl chr19:4,889,394...4,892,556 		JBrowse link
G Ccnd1 cyclin D1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 7:144,483,668...144,493,568
Ensembl chr 7:144,483,668...144,493,662 		JBrowse link
G Ccs copper chaperone for superoxide dismutase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,875,394...4,889,326
Ensembl chr19:4,875,394...4,889,360 		JBrowse link
G Cd248 CD248 antigen, endosialin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,118,106...5,120,668
Ensembl chr19:5,118,106...5,120,710 		JBrowse link
G Cdc42ep2 CDC42 effector protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,967,584...5,974,844
Ensembl chr19:5,965,664...5,974,844 		JBrowse link
G Cdk2ap2 cyclin dependent kinase 2 associated protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,146,204...4,149,019
Ensembl chr19:4,147,182...4,149,019 		JBrowse link
G Cfl1 cofilin 1, non-muscle ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr19:5,540,483...5,544,059
Ensembl chr19:5,540,483...5,545,229 		JBrowse link
G Chka choline kinase alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:3,901,585...3,944,368
Ensembl chr19:3,901,773...3,944,369 		JBrowse link
G Clcf1 cardiotrophin-like cytokine factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,264,479...4,273,548
Ensembl chr19:4,264,292...4,273,544 		JBrowse link
G Cnih2 cornichon family AMPA receptor auxiliary protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,142,896...5,148,549
Ensembl chr19:5,142,896...5,148,549 		JBrowse link
G Coro1b coronin, actin binding protein 1B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,198,610...4,204,034
Ensembl chr19:4,198,618...4,204,034 		JBrowse link
G Cpt1a carnitine palmitoyltransferase 1a, liver ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:3,372,328...3,435,735
Ensembl chr19:3,372,334...3,435,733 		JBrowse link
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,394,733...5,399,602
Ensembl chr19:5,394,733...5,399,602 		JBrowse link
G Ctsf cathepsin F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,905,153...4,910,946
Ensembl chr19:4,905,158...4,910,946 		JBrowse link
G Ctsw cathepsin W ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,515,071...5,518,558
Ensembl chr19:5,515,071...5,518,535 		JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,946,544...5,962,899
Ensembl chr19:5,946,544...5,963,038 		JBrowse link
G Dpp3 dipeptidylpeptidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,957,257...4,978,315
Ensembl chr19:4,957,257...4,978,315 		JBrowse link
G Drap1 DR1 associated protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,472,832...5,475,007
Ensembl chr19:5,472,833...5,475,007 		JBrowse link
G Efemp2 epidermal growth factor-containing fibulin-like extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr19:5,523,974...5,532,548
Ensembl chr19:5,523,982...5,532,545 		JBrowse link
G Ehbp1l1 EH domain binding protein 1-like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr19:5,757,397...5,776,504
Ensembl chr19:5,757,404...5,776,345 		JBrowse link
G Eif1ad eukaryotic translation initiation factor 1A domain containing ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,416,841...5,421,546
Ensembl chr19:5,416,769...5,421,554 		JBrowse link
G Fadd Fas associated via death domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 7:144,132,060...144,136,178
Ensembl chr 7:144,131,055...144,136,200 		JBrowse link
G Fam89b family with sequence similarity 89, member B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr19:5,778,115...5,779,694
Ensembl chr19:5,778,115...5,779,681 		JBrowse link
G Fgf15 fibroblast growth factor 15 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 7:144,450,269...144,454,690
Ensembl chr 7:144,450,268...144,454,690 		JBrowse link
G Fgf3 fibroblast growth factor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 7:144,392,349...144,397,085
Ensembl chr 7:144,391,820...144,398,173 		JBrowse link
G Fgf4 fibroblast growth factor 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 7:144,415,123...144,418,982
Ensembl chr 7:144,401,104...144,418,980 		JBrowse link
G Fibp fibroblast growth factor (acidic) intracellular binding protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,510,626...5,515,080
Ensembl chr19:5,510,643...5,515,079 		JBrowse link
G Fosl1 fos-like antigen 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,497,726...5,505,966
Ensembl chr19:5,497,575...5,505,974 		JBrowse link
G Frmd8 FERM domain containing 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,901,002...5,925,297
Ensembl chr19:5,899,730...5,925,302 		JBrowse link
G Gal galanin and GMAP prepropeptide ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:3,459,915...3,464,544
Ensembl chr19:3,459,915...3,464,544 		JBrowse link
G Gal3st3 galactose-3-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,348,359...5,358,767
Ensembl chr19:5,348,359...5,358,766 		JBrowse link
G Gm21992 predicted gene 21992 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,792,941...4,861,662
Ensembl chr19:4,792,941...4,861,640 		JBrowse link
G Gpr152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,189,798...4,195,740
Ensembl chr19:4,189,786...4,195,739 		JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,336,029...4,356,356
Ensembl chr19:4,336,029...4,356,250 		JBrowse link
G Gstp1 glutathione S-transferase, pi 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985 		JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:3,309,076...3,333,011
Ensembl chr19:3,309,076...3,333,017 		JBrowse link
G Kat5 K(lysine) acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:25741868 PMID:28492532 PMID:28600438 NCBI chr19:5,653,042...5,661,584
Ensembl chr19:5,653,042...5,660,265 		JBrowse link
G Kcnk7 potassium channel, subfamily K, member 7 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr19:5,754,471...5,757,956
Ensembl chr19:5,754,395...5,757,137 		JBrowse link
G Kdm2a lysine (K)-specific demethylase 2A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,366,172...4,448,749
Ensembl chr19:4,364,447...4,448,313 		JBrowse link
G Klc2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,157,774...5,168,326
Ensembl chr19:5,157,774...5,168,588 		JBrowse link
G Kmt5b lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:3,816,436...3,868,303
Ensembl chr19:3,817,421...3,868,303 		JBrowse link
G Lrfn4 leucine rich repeat and fibronectin type III domain containing 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,661,817...4,665,720
Ensembl chr19:4,661,813...4,665,695 		JBrowse link
G Lrp5 low density lipoprotein receptor-related protein 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:3,634,825...3,736,574
Ensembl chr19:3,634,828...3,736,564 		JBrowse link
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr19:5,790,928...5,808,564
Ensembl chr19:5,790,932...5,808,560 		JBrowse link
G LTO1 ABCE maturation factor ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 7:144,468,882...144,485,989
Ensembl chr 7:144,468,837...144,485,438 		JBrowse link
G Malat1 metastasis associated lung adenocarcinoma transcript 1 (non-coding RNA) ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,845,718...5,852,700
Ensembl chr19:5,845,717...5,852,706 		JBrowse link
G Map3k11 mitogen-activated protein kinase kinase kinase 11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr19:5,738,764...5,752,893
Ensembl chr19:5,738,770...5,752,893 		JBrowse link
G Mrgprd MAS-related GPR, member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 7:144,868,572...144,877,796
Ensembl chr 7:144,868,572...144,877,823 		JBrowse link
G Mrgprf MAS-related GPR, member F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 7:144,854,646...144,863,294
Ensembl chr 7:144,854,565...144,863,294 		JBrowse link
G Mrpl11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,012,180...5,017,023
Ensembl chr19:5,012,175...5,017,027 		JBrowse link
G Mrpl21 mitochondrial ribosomal protein L21 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:3,332,997...3,342,837
Ensembl chr19:3,332,901...3,342,837 		JBrowse link
G Mus81 MUS81 structure-specific endonuclease subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr19:5,532,589...5,538,461
Ensembl chr19:5,532,373...5,538,430 		JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:3,958,863...3,962,774
Ensembl chr19:3,958,863...3,962,774 		JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,057,499...4,062,755
Ensembl chr19:4,057,384...4,062,806 		JBrowse link
G Neat1 nuclear paraspeckle assembly transcript 1 (non-protein coding) ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,874,736...5,895,508
Ensembl chr19:5,874,736...5,895,898 		JBrowse link
G Npas4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,034,381...5,053,467
Ensembl chr19:5,034,383...5,040,344 		JBrowse link
G Nudt8 nudix hydrolase 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,050,580...4,052,102
Ensembl chr19:4,050,580...4,052,103 		JBrowse link
G Ovol1 ovo like zinc finger 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr19:5,599,165...5,610,603
Ensembl chr19:5,599,164...5,610,674 		JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,183,714...5,323,138
Ensembl chr19:5,183,186...5,323,147 		JBrowse link
G Pcnx3 pecanex homolog 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr19:5,714,663...5,739,036
Ensembl chr19:5,714,663...5,738,936 		JBrowse link
G Pcx pyruvate carboxylase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,560,500...4,671,780
Ensembl chr19:4,560,500...4,671,780 		JBrowse link
G Peli3 pellino 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,979,745...4,993,155
Ensembl chr19:4,979,745...4,993,155 		JBrowse link
G Pitpnm1 phosphatidylinositol transfer protein, membrane-associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,150,012...4,163,966
Ensembl chr19:4,149,998...4,163,965 		JBrowse link
G Pola2 polymerase (DNA directed), alpha 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,990,574...6,014,266
Ensembl chr19:5,990,570...6,014,230 		JBrowse link
G Pold4 polymerase (DNA-directed), delta 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,281,947...4,283,688
Ensembl chr19:4,281,953...4,283,688 		JBrowse link
G Ppp1ca protein phosphatase 1 catalytic subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,242,173...4,245,418
Ensembl chr19:4,242,064...4,245,419 		JBrowse link
G Ppp6r3 protein phosphatase 6, regulatory subunit 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:3,504,928...3,626,191
Ensembl chr19:3,504,928...3,625,749 		JBrowse link
G Ptprcap protein tyrosine phosphatase receptor type C polypeptide-associated protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,204,645...4,206,709
Ensembl chr19:4,203,603...4,206,750 		JBrowse link
G Rab1b RAB1B, member RAS oncogene family ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,149,235...5,157,024
Ensembl chr19:5,149,233...5,157,100 		JBrowse link
G Rad9a RAD9 checkpoint clamp component A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,245,195...4,251,710
Ensembl chr19:4,245,195...4,251,661 		JBrowse link
G Rbm14 RNA binding motif protein 14 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,850,594...4,861,662
Ensembl chr19:4,850,597...4,861,662 		JBrowse link
G Rbm4 RNA binding motif protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,834,321...4,844,037
Ensembl chr19:4,834,321...4,843,929 		JBrowse link
G Rbm4b RNA binding motif protein 4B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,806,480...4,816,199
Ensembl chr19:4,806,525...4,817,093 		JBrowse link
G Rce1 Ras converting CAAX endopeptidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,672,621...4,675,673
Ensembl chr19:4,672,619...4,675,669 		JBrowse link
G Rela v-rel reticuloendotheliosis viral oncogene homolog A (avian) ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr19:5,686,993...5,698,162
Ensembl chr19:5,687,511...5,698,158 		JBrowse link
G Rhod ras homolog family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,473,500...4,489,562
Ensembl chr19:4,475,487...4,489,460 		JBrowse link
G Rin1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,100,035...5,107,100
Ensembl chr19:5,100,509...5,107,099 		JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar Annotator: match by term: RNASEH2C-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chr19:5,651,901...5,652,987
Ensembl chr19:5,651,901...5,657,047 		JBrowse link
G Rps6kb2 ribosomal protein S6 kinase, polypeptide 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,206,791...4,213,382
Ensembl chr19:4,203,990...4,213,353 		JBrowse link
G Sart1 squamous cell carcinoma antigen recognized by T cells 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,427,551...5,438,731
Ensembl chr19:5,427,551...5,438,731 		JBrowse link
G Scyl1 SCY1-like 1 (S. cerevisiae) ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,808,450...5,821,461
Ensembl chr19:5,808,379...5,821,447 		JBrowse link
G Sf3b2 splicing factor 3b, subunit 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,323,949...5,345,485
Ensembl chr19:5,323,960...5,345,483 		JBrowse link
G Sipa1 signal-induced proliferation associated gene 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr19:5,701,211...5,713,758
Ensembl chr19:5,701,213...5,713,735 		JBrowse link
G Slc25a45 solute carrier family 25, member 45 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,927,828...5,935,796
Ensembl chr19:5,927,836...5,935,906 		JBrowse link
G Slc29a2 solute carrier family 29 (nucleoside transporters), member 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,069,085...5,082,000
Ensembl chr19:5,073,888...5,082,000 		JBrowse link
G Snx32 sorting nexin 32 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr19:5,545,302...5,560,741
Ensembl chr19:5,542,263...5,560,566 		JBrowse link
G Sptbn2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,761,236...4,804,006
Ensembl chr19:4,761,195...4,802,388 		JBrowse link
G Ssh3 slingshot protein phosphatase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,311,696...4,319,261
Ensembl chr19:4,311,696...4,319,208 		JBrowse link
G Syt12 synaptotagmin XII ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,495,936...4,527,171
Ensembl chr19:4,495,936...4,527,475 		JBrowse link
G Tbc1d10c TBC1 domain family, member 10c ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,234,356...4,241,194
Ensembl chr19:4,233,410...4,241,283 		JBrowse link
G Tbx10 T-box 10 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,042,752...4,049,512
Ensembl chr19:4,042,752...4,049,512 		JBrowse link
G Tcirg1 T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 protein A3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:3,946,050...3,957,717
Ensembl chr19:3,946,050...3,957,133 		JBrowse link
G Tesmin testis expressed metallothionein like ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:3,438,857...3,457,823
Ensembl chr19:3,438,857...3,457,823 		JBrowse link
G Tigd3 tigger transposable element derived 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,941,166...5,944,156
Ensembl chr19:5,941,166...5,944,177 		JBrowse link
G Tmem134 transmembrane protein 134 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,175,960...4,182,306
Ensembl chr19:4,175,934...4,182,306 		JBrowse link
G Tmem151a transmembrane protein 151A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,120,859...5,135,519
Ensembl chr19:5,120,887...5,135,559 		JBrowse link
G Top6bl TOP6B like initiator of meiotic double strand breaks ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,675,758...4,748,753
Ensembl chr19:4,675,762...4,748,696 		JBrowse link
G Tpcn2 two pore segment channel 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 7:144,735,370...144,837,743
Ensembl chr 7:144,740,261...144,837,748 		JBrowse link
G Tsga10ip testis specific 10 interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,440,075...5,452,534
Ensembl chr19:5,440,077...5,452,554 		JBrowse link
G Unc93b1 unc-93 homolog B1, TLR signaling regulator ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:3,985,222...3,999,340
Ensembl chr19:3,985,186...3,999,340 		JBrowse link
G Yif1a Yip1 interacting factor homolog A (S. cerevisiae) ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:5,138,566...5,142,907
Ensembl chr19:5,138,566...5,142,909 		JBrowse link
G Zdhhc24 zinc finger, DHHC domain containing 24 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr19:4,928,696...4,935,425
Ensembl chr19:4,928,696...4,935,425 		JBrowse link
G Znrd2 zinc ribbon domain containing 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr19:5,780,334...5,781,760
Ensembl chr19:5,780,331...5,781,760
Ensembl chr19:5,780,331...5,781,760 		JBrowse link
Aicardi-Goutieres Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnase2a deoxyribonuclease II alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 8:85,635,384...85,638,332
Ensembl chr 8:85,635,189...85,649,544 		JBrowse link
G Gcdh glutaryl-Coenzyme A dehydrogenase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 8:85,613,016...85,629,378
Ensembl chr 8:85,613,022...85,620,550 		JBrowse link
G Klf1 Kruppel-like transcription factor 1 (erythroid) ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 8:85,628,611...85,631,920
Ensembl chr 8:85,628,557...85,631,924 		JBrowse link
G Mast1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 8:85,638,482...85,672,811
Ensembl chr 8:85,638,532...85,663,988 		JBrowse link
G Rnaseh2a ribonuclease H2, large subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15870678 PMID:16199547 PMID:16845400 PMID:17576681 More... NCBI chr 8:85,683,239...85,694,498
Ensembl chr 8:85,683,239...85,696,396 		JBrowse link
G Rtbdn retbindin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 8:85,672,880...85,683,235
Ensembl chr 8:85,673,620...85,683,232 		JBrowse link
G Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:28492532 NCBI chr 8:85,598,740...85,614,075
Ensembl chr 8:85,598,740...85,614,850 		JBrowse link
Aicardi-Goutieres Syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blcap bladder cancer associated protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 2:157,398,282...157,408,281
Ensembl chr 2:157,398,282...157,413,194 		JBrowse link
G Ctnnbl1 catenin, beta like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 2:157,579,321...157,733,823
Ensembl chr 2:157,579,321...157,733,534 		JBrowse link
G Ghrh growth hormone releasing hormone ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 2:157,171,416...157,190,645
Ensembl chr 2:157,171,417...157,189,426 		JBrowse link
G Manbal mannosidase, beta A, lysosomal-like ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 2:157,209,514...157,238,683
Ensembl chr 2:157,209,514...157,238,683 		JBrowse link
G Mroh8 maestro heat-like repeat family member 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 2:157,050,468...157,121,612
Ensembl chr 2:157,050,470...157,121,469 		JBrowse link
G Nnat neuronatin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 2:157,401,936...157,404,445
Ensembl chr 2:157,401,998...157,404,442 		JBrowse link
G Rbl1 RB transcriptional corepressor like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 2:156,987,813...157,046,454
Ensembl chr 2:156,987,813...157,046,454 		JBrowse link
G Rpn2 ribophorin II ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 2:157,121,018...157,168,238
Ensembl chr 2:157,120,937...157,168,239 		JBrowse link
G Samhd1 SAM domain and HD domain, 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chr 2:156,939,454...156,977,016
Ensembl chr 2:156,939,453...156,977,185 		JBrowse link
G Src Rous sarcoma oncogene ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr 2:157,265,828...157,313,758
Ensembl chr 2:157,260,364...157,313,782 		JBrowse link
G Tldc2 TBC/LysM associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:156,918,542...156,938,868
Ensembl chr 2:156,928,975...156,938,402 		JBrowse link
Aicardi-Goutieres Syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 OMIM
ClinVar		 PMID:9536098 PMID:9889202 PMID:15146470 PMID:15489923 PMID:15955093 More... NCBI chr 3:89,622,321...89,660,756
Ensembl chr 3:89,622,329...89,660,753 		JBrowse link
Aicardi-Goutieres Syndrome 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 | ClinVar Annotator: match by term: Aicardi-goutieres syndrome 7 OMIM
ClinVar		 PMID:16199547 PMID:21070929 PMID:24686847 PMID:24995871 PMID:25243380 More... NCBI chr 2:62,426,137...62,476,599
Ensembl chr 2:62,426,142...62,476,599 		JBrowse link
Aicardi-Goutieres Syndrome 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lsm11 U7 snRNP-specific Sm-like protein LSM11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 OMIM
ClinVar		 PMID:33230297 NCBI chr11:45,819,096...45,835,762
Ensembl chr11:45,819,096...45,835,762 		JBrowse link
Aicardi-Goutieres Syndrome 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 ClinVar PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297 NCBI chr 6:124,716,146...124,718,032
Ensembl chr 6:124,716,146...124,718,337 		JBrowse link
Idiopathic Basal Ganglia Calcification 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna6 cholinergic receptor, nicotinic, alpha polypeptide 6 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:27,893,240...27,903,972
Ensembl chr 8:27,893,240...27,903,972 		JBrowse link
G Chrnb3 cholinergic receptor, nicotinic, beta polypeptide 3 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:27,858,688...27,889,758
Ensembl chr 8:27,858,739...27,889,758 		JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar NCBI chr 2:122,109,727...122,129,221
Ensembl chr 2:122,109,728...122,128,930 		JBrowse link
G Fnta farnesyltransferase, CAAX box, alpha ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:26,488,716...26,505,638
Ensembl chr 8:26,488,750...26,505,678 		JBrowse link
G Hook3 hook microtubule tethering protein 3 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:26,511,449...26,609,646
Ensembl chr 8:26,511,449...26,609,252 		JBrowse link
G Pdgfb platelet derived growth factor, B polypeptide ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1		 CTD
ClinVar		 PMID:23913003 PMID:25741868 NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178 		JBrowse link
G Pdgfrb platelet derived growth factor receptor, beta polypeptide ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 3		 CTD
ClinVar		 PMID:25741868 PMID:28492532 NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133 		JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:26,609,396...26,633,903
Ensembl chr 8:26,609,396...26,641,818 		JBrowse link
G Slc20a2 solute carrier family 20, member 2 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 | ClinVar Annotator: match by term: SLC20A2-related condition
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:16199547 PMID:20301594 PMID:22327515 PMID:23334463 PMID:23437308 More... NCBI chr 8:22,966,771...23,059,632
Ensembl chr 8:22,966,804...23,059,628 		JBrowse link
G Smim19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:22,952,630...22,966,850
Ensembl chr 8:22,952,630...22,966,898 		JBrowse link
G Thap1 THAP domain containing, apoptosis associated protein 1 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr 8:26,648,197...26,654,179
Ensembl chr 8:26,648,169...26,654,179 		JBrowse link
Idiopathic Basal Ganglia Calcification 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfrb platelet derived growth factor receptor, beta polypeptide ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 4
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:15054839 PMID:16199547 PMID:17576681 PMID:20301594 More... NCBI chr18:61,178,194...61,218,139
Ensembl chr18:61,178,222...61,218,133 		JBrowse link
Idiopathic Basal Ganglia Calcification 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfb platelet derived growth factor, B polypeptide ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 5
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:20301594 PMID:21409505 PMID:23913003 PMID:25211641 PMID:25741868 NCBI chr15:79,880,066...79,899,178
Ensembl chr15:79,880,075...79,899,178 		JBrowse link
Idiopathic Basal Ganglia Calcification 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xpr1 xenotropic and polytropic retrovirus receptor 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 | ClinVar Annotator: match by term: XPR1-related primary familial brain calcification		 OMIM
CTD
ClinVar		 PMID:886353 PMID:25741868 PMID:25938945 PMID:28492532 PMID:31003906 NCBI chr 1:155,151,403...155,293,190
Ensembl chr 1:155,151,447...155,293,161 		JBrowse link
Idiopathic Basal Ganglia Calcification 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myorg myogenesis regulating glycosidase (putative) ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 7, autosomal recessive | ClinVar Annotator: match by term: MYORG-related condition OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:29910000 PMID:30460687 PMID:30589467 More... NCBI chr 4:41,495,601...41,503,132
Ensembl chr 4:41,495,604...41,503,076 		JBrowse link
Idiopathic Basal Ganglia Calcification 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jam2 junction adhesion molecule 2 ISO 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 chr16:84,571,011...84,623,268
Ensembl chr16:84,571,011...84,622,816 		JBrowse link
Idiopathic Basal Ganglia Calcification 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Naa60 N(alpha)-acetyltransferase 60, NatF catalytic subunit ISO ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE ClinVar
OMIM		 PMID:38480682 NCBI chr16:3,690,365...3,722,645
Ensembl chr16:3,690,239...3,722,634 		JBrowse link
Idiopathic Basal Ganglia Calcification, Childhood Onset term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, childhood-onset | ClinVar Annotator: match by term: Cerebral calcification nonarteriosclerotic idiopathic childhood-onset ClinVar PMID:25741868 PMID:28492532 NCBI chr 2:62,426,137...62,476,599
Ensembl chr 2:62,426,142...62,476,599 		JBrowse link
immunodeficiency 38 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 9430015G10Rik RIKEN cDNA 9430015G10 gene ISO 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 4:156,194,455...156,211,720
Ensembl chr 4:156,194,439...156,211,722 		JBrowse link
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO 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 4:155,976,332...155,991,708
Ensembl chr 4:155,976,279...155,991,708 		JBrowse link
G Actrt2 actin-related protein T2 ISO 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 4:154,750,885...154,752,324
Ensembl chr 4:154,750,890...154,752,324 		JBrowse link
G Agrn agrin ISO 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 4:156,249,747...156,281,997
Ensembl chr 4:156,249,747...156,281,945 		JBrowse link
G Ankrd65 ankyrin repeat domain 65 ISO 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 4:155,875,432...155,884,132
Ensembl chr 4:155,874,896...155,877,659 		JBrowse link
G Arhgef16 Rho guanine nucleotide exchange factor 16 ISO 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 4:154,362,926...154,384,535
Ensembl chr 4:154,362,943...154,386,133 		JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO 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 4:155,825,097...155,845,579
Ensembl chr 4:155,825,098...155,845,550 		JBrowse link
G Aurkaip1 aurora kinase A interacting protein 1 ISO 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 4:155,915,709...155,917,555
Ensembl chr 4:155,915,729...155,917,587 		JBrowse link
G B3galt6 UDP-Gal:betaGal beta 1,3-galactosyltransferase, polypeptide 6 ISO 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 4:156,073,923...156,077,135
Ensembl chr 4:156,073,923...156,077,106 		JBrowse link
G C1qtnf12 C1q and tumor necrosis factor related 12 ISO 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 4:156,046,769...156,051,086
Ensembl chr 4:156,046,775...156,051,086 		JBrowse link
G Ccdc27 coiled-coil domain containing 27 ISO 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 4:154,111,101...154,127,202
Ensembl chr 4:154,111,096...154,127,134 		JBrowse link
G Ccnl2 cyclin L2 ISO 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 4:155,894,468...155,909,005
Ensembl chr 4:155,896,946...155,909,000 		JBrowse link
G Cdk11b cyclin dependent kinase 11B ISO 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 4:155,709,303...155,734,392
Ensembl chr 4:155,709,311...155,734,395 		JBrowse link
G Cep104 centrosomal protein 104 ISO 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 4:154,059,649...154,093,189
Ensembl chr 4:154,059,651...154,093,189 		JBrowse link
G Cfap74 cilia and flagella associated protein 74 ISO 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 4:155,493,647...155,551,280
Ensembl chr 4:155,493,647...155,551,280 		JBrowse link
G Cptp ceramide-1-phosphate transfer protein ISO 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 4:155,949,180...155,953,897
Ensembl chr 4:155,949,180...155,953,897 		JBrowse link
G Dvl1 dishevelled segment polarity protein 1 ISO 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 4:155,931,829...155,943,760
Ensembl chr 4:155,931,859...155,943,760 		JBrowse link
G Faap20 Fanconi anemia core complex associated protein 20 ISO 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 4:155,333,168...155,341,144
Ensembl chr 4:155,334,259...155,341,144 		JBrowse link
G Fndc10 fibronectin type III domain containing 10 ISO 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 4:155,778,775...155,780,942
Ensembl chr 4:155,778,799...155,780,938 		JBrowse link
G Gabrd gamma-aminobutyric acid (GABA) A receptor, subunit delta ISO 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 4:155,469,437...155,482,528
Ensembl chr 4:155,469,437...155,482,569 		JBrowse link
G Gnb1 guanine nucleotide binding protein (G protein), beta 1 ISO 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 4:155,575,514...155,643,726
Ensembl chr 4:155,575,818...155,643,726 		JBrowse link
G Hes5 hes family bHLH transcription factor 5 ISO 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 4:155,042,358...155,046,829
Ensembl chr 4:155,045,380...155,046,828 		JBrowse link
G Ints11 integrator complex subunit 11 ISO 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 4:155,954,006...155,973,561
Ensembl chr 4:155,954,003...155,973,560 		JBrowse link
G Isg15 ISG15 ubiquitin-like modifier ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:19492091 More... NCBI chr 4:156,283,881...156,285,275
Ensembl chr 4:156,283,912...156,285,253 		JBrowse link
G Klhl17 kelch-like 17 ISO 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 4:156,313,501...156,319,314
Ensembl chr 4:156,313,792...156,319,314 		JBrowse link
G Lrrc47 leucine rich repeat containing 47 ISO 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 4:154,096,260...154,105,969
Ensembl chr 4:154,096,188...154,105,970 		JBrowse link
G Megf6 multiple EGF-like-domains 6 ISO 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 4:154,255,156...154,360,178
Ensembl chr 4:154,255,187...154,360,170 		JBrowse link
G Mib2 mindbomb E3 ubiquitin protein ligase 2 ISO 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 4:155,738,925...155,753,711
Ensembl chr 4:155,739,134...155,753,655 		JBrowse link
G Mir200a microRNA 200a ISO 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 4:156,139,353...156,139,442
Ensembl chr 4:156,139,353...156,139,442 		JBrowse link
G Mir200b microRNA 200b ISO 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 4:156,140,138...156,140,207
Ensembl chr 4:156,140,138...156,140,207 		JBrowse link
G Mir429 microRNA 429 ISO 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 4:156,138,362...156,138,444
Ensembl chr 4:156,138,362...156,138,444 		JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO 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 4:154,954,042...154,979,987
Ensembl chr 4:154,954,042...154,979,985 		JBrowse link
G Mmp23 matrix metallopeptidase 23 ISO 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 4:155,735,111...155,738,982
Ensembl chr 4:155,735,112...155,737,841 		JBrowse link
G Morn1 MORN repeat containing 1 ISO 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 4:155,167,771...155,229,964
Ensembl chr 4:155,171,034...155,229,962 		JBrowse link
G Mrpl20 mitochondrial ribosomal protein L20 ISO 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 4:155,887,335...155,893,288
Ensembl chr 4:155,887,335...155,894,432 		JBrowse link
G Mxra8 matrix-remodelling associated 8 ISO 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 4:155,924,137...155,928,559
Ensembl chr 4:155,924,137...155,928,545 		JBrowse link
G Nadk NAD kinase ISO 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 4:155,646,838...155,675,458
Ensembl chr 4:155,646,835...155,675,458 		JBrowse link
G Noc2l NOC2 like nucleolar associated transcriptional repressor ISO 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 4:156,319,112...156,332,078
Ensembl chr 4:156,320,376...156,332,073 		JBrowse link
G Pank4 pantothenate kinase 4 ISO 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 4:155,048,580...155,065,395
Ensembl chr 4:155,048,580...155,065,395 		JBrowse link
G Pex10 peroxisomal biogenesis factor 10 ISO 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 4:155,151,487...155,156,863
Ensembl chr 4:155,151,473...155,156,890 		JBrowse link
G Plch2 phospholipase C, eta 2 ISO 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 4:155,067,572...155,148,548
Ensembl chr 4:155,067,572...155,141,241 		JBrowse link
G Plekhn1 pleckstrin homology domain containing, family N member 1 ISO 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 4:156,305,913...156,312,999
Ensembl chr 4:156,305,913...156,314,174 		JBrowse link
G Prdm16 PR domain containing 16 ISO 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 4:154,400,579...154,721,851
Ensembl chr 4:154,400,582...154,721,330 		JBrowse link
G Prkcz protein kinase C, zeta ISO 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 4:155,344,579...155,445,856
Ensembl chr 4:155,344,586...155,445,818 		JBrowse link
G Prxl2b peroxiredoxin like 2B ISO 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 4:154,980,884...154,983,522
Ensembl chr 4:154,979,961...154,983,592 		JBrowse link
G Pusl1 pseudouridylate synthase-like 1 ISO 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 4:155,973,314...155,976,231
Ensembl chr 4:155,972,336...155,976,238 		JBrowse link
G Rer1 retention in endoplasmic reticulum sorting receptor 1 ISO 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 4:155,158,566...155,170,840
Ensembl chr 4:155,158,567...155,170,839 		JBrowse link
G Rnf223 ring finger 223 ISO 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 4:156,214,972...156,217,874
Ensembl chr 4:156,214,970...156,217,877 		JBrowse link
G Samd11 sterile alpha motif domain containing 11 ISO 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 4:156,331,423...156,342,409
Ensembl chr 4:156,331,423...156,340,717 		JBrowse link
G Sdf4 stromal cell derived factor 4 ISO 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 4:156,077,300...156,098,067
Ensembl chr 4:156,077,329...156,098,067 		JBrowse link
G Ski ski sarcoma viral oncogene homolog (avian) ISO 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 4:155,238,532...155,307,536
Ensembl chr 4:155,238,532...155,307,049 		JBrowse link
G Slc35e2 solute carrier family 35, member E2 ISO 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 4:155,685,873...155,707,797
Ensembl chr 4:155,685,873...155,707,797 		JBrowse link
G Smim1 small integral membrane protein 1 ISO 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 4:154,104,927...154,110,550
Ensembl chr 4:154,104,927...154,110,687 		JBrowse link
G Ssu72 Ssu72 RNA polymerase II CTD phosphatase homolog (yeast) ISO 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 4:155,789,272...155,818,336
Ensembl chr 4:155,789,257...155,818,336 		JBrowse link
G Tas1r3 taste receptor, type 1, member 3 ISO 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 4:155,943,725...155,947,810
Ensembl chr 4:155,943,725...155,947,819 		JBrowse link
G Tmem240 transmembrane protein 240 ISO 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 4:155,818,336...155,825,025
Ensembl chr 4:155,819,261...155,825,021 		JBrowse link
G Tmem52 transmembrane protein 52 ISO 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 4:155,553,571...155,555,315
Ensembl chr 4:155,553,571...155,555,315 		JBrowse link
G Tmem88b transmembrane protein 88B ISO 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 4:155,866,048...155,870,331
Ensembl chr 4:155,866,048...155,870,331 		JBrowse link
G Tnfrsf14 tumor necrosis factor receptor superfamily, member 14 (herpesvirus entry mediator) ISO 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 4:155,002,944...155,013,077
Ensembl chr 4:155,006,390...155,013,020 		JBrowse link
G Tnfrsf18 tumor necrosis factor receptor superfamily, member 18 ISO 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 4:156,110,779...156,113,351
Ensembl chr 4:156,110,621...156,113,352 		JBrowse link
G Tnfrsf4 tumor necrosis factor receptor superfamily, member 4 ISO 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 4:156,098,049...156,101,070
Ensembl chr 4:156,098,300...156,101,069 		JBrowse link
G Tprg1l transformation related protein 63 regulated 1 like ISO 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 4:154,241,942...154,246,763
Ensembl chr 4:154,241,942...154,245,123 		JBrowse link
G Trp73 transformation related protein 73 ISO 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 4:154,140,706...154,224,332
Ensembl chr 4:154,140,706...154,224,665 		JBrowse link
G Ttc34 tetratricopeptide repeat domain 34 ISO 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 4:154,921,871...154,951,582
Ensembl chr 4:154,921,916...154,951,584 		JBrowse link
G Ttll10 tubulin tyrosine ligase-like family, member 10 ISO 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 4:156,119,292...156,135,274
Ensembl chr 4:156,119,297...156,143,871 		JBrowse link
G Ube2j2 ubiquitin-conjugating enzyme E2J 2 ISO 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 4:156,028,270...156,044,061
Ensembl chr 4:156,028,288...156,044,061 		JBrowse link
G Vwa1 von Willebrand factor A domain containing 1 ISO 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 4:155,852,952...155,859,042
Ensembl chr 4:155,852,606...155,859,155 		JBrowse link
G Wrap73 WD repeat containing, antisense to Trp73 ISO 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 4:154,226,811...154,241,278
Ensembl chr 4:154,226,829...154,251,877 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16121
    Nutritional and Metabolic Diseases 7404
      disease of metabolism 7404
        mineral metabolism disease 920
          calcium metabolism disease 600
            calcinosis 531
              basal ganglia calcification 295
                Aicardi-Goutieres syndrome + 212
                Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 0
                Idiopathic Basal Ganglia Calcification 1 11
                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 68
Path 2
Term Annotations click to browse term
  disease 16121
    Nutritional and Metabolic Diseases 7404
      disease of metabolism 7404
        acquired metabolic disease 2327
          mineral metabolism disease 920
            calcium metabolism disease 600
              calcinosis 531
                basal ganglia calcification 295
                  Aicardi-Goutieres syndrome + 212
                  Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 0
                  Idiopathic Basal Ganglia Calcification 1 11
                  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 68
paths to the root