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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


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basal ganglia calcification term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myorg myogenesis regulating glycosidase (putative) ISO OMIM:114100 | OMIM:213600 | OMIM:615007 | OMIM:615483 MouseDO NCBI chrNW_004624736:38,775,648...38,786,112 JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chrNW_004624774:9,432,765...9,469,690
Ensembl chrNW_004624774:9,432,541...9,469,881
JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chrNW_004624780:725,992...833,419
Ensembl chrNW_004624780:779,900...832,137
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 ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9889202 PMID:19060901 PMID:20301648 PMID:23001123 PMID:24033266 More... NCBI chrNW_004624885:2,783,058...2,839,688
Ensembl chrNW_004624885:2,812,448...2,839,693
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 chrNW_004624730:2,413,474...2,431,012
Ensembl chrNW_004624730:2,413,014...2,430,827
JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chrNW_004624732:3,187,791...3,248,795
Ensembl chrNW_004624732:3,187,791...3,250,981
JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chrNW_004624767:20,668,759...20,675,367
Ensembl chrNW_004624767:20,666,763...20,675,164
JBrowse link
G Rnaseh2a ribonuclease H2 subunit A ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:17846997 PMID:20131292 PMID:21177858 PMID:21454563 PMID:23592335 More... NCBI chrNW_004624901:411,023...419,831
Ensembl chrNW_004624901:411,078...419,831
JBrowse link
G Rnaseh2b ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:16199547 PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 More... NCBI chrNW_004624748:3,246,707...3,339,443 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 chrNW_004624767:20,667,401...20,668,490
Ensembl chrNW_004624767:20,667,418...20,668,490
JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chrNW_004624842:2,591,016...2,649,746
Ensembl chrNW_004624842:2,591,148...2,647,742
JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624842:2,649,943...2,668,957
Ensembl chrNW_004624842:2,626,897...2,668,822
JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: ENCEPHALOPATHY, FAMILIAL INFANTILE, WITH INTRACRANIAL CALCIFICATION AND CHRONIC CEREBROSPINAL FLUID LYMPHOCYTOSIS | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME ClinVar PMID:16845398 PMID:17293595 PMID:17660818 PMID:17660820 PMID:17846997 More... NCBI chrNW_004624730:2,431,270...2,433,010
Ensembl chrNW_004624730:2,431,999...2,432,959
JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chrNW_004624735:9,158,597...9,187,503 JBrowse link
Aicardi-Goutieres Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amigo3 adhesion molecule with Ig like domain 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,641,716...3,644,504
Ensembl chrNW_004624730:3,642,603...3,644,135
JBrowse link
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,366,023...3,372,266
Ensembl chrNW_004624730:3,366,023...3,371,425
JBrowse link
G Apeh acylaminoacyl-peptide hydrolase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,601,792...3,612,048
Ensembl chrNW_004624730:3,601,714...3,612,048
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 chrNW_004624730:2,953,649...3,023,716
Ensembl chrNW_004624730:2,953,669...3,023,042
JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1, autosomal dominant ClinVar PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More... NCBI chrNW_004624730:2,413,474...2,431,012
Ensembl chrNW_004624730:2,413,014...2,430,827
JBrowse link
G Bsn bassoon presynaptic cytomatrix protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,498,118...3,600,488
Ensembl chrNW_004624730:3,498,257...3,593,450
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 chrNW_004624730:3,775,961...3,805,137
Ensembl chrNW_004624730:3,775,969...3,788,020
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 chrNW_004624730:3,173,882...3,179,251
Ensembl chrNW_004624730:3,175,143...3,176,528
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 chrNW_004624730:3,707,115...3,714,615
Ensembl chrNW_004624730:3,707,040...3,714,348
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 chrNW_004624730:2,650,096...2,675,930
Ensembl chrNW_004624730:2,651,756...2,675,923
JBrowse link
G Cimip7 ciliary microtubule inner protein 7 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,187,956...3,198,064
Ensembl chrNW_004624730:3,188,765...3,198,025
JBrowse link
G Col7a1 collagen type VII alpha 1 chain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,569,510...2,599,959 JBrowse link
G CUNH3orf62 chromosome unknown C3orf62 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,249,440...3,252,795
Ensembl chrNW_004624730:3,249,482...3,251,966
JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,417,356...3,488,300
Ensembl chrNW_004624730:3,417,347...3,488,879
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 chrNW_004624730:3,063,241...3,066,253
Ensembl chrNW_004624730:3,063,245...3,066,453
JBrowse link
G Dclre1c DNA cross-link repair 1C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:18223550 PMID:25741868 PMID:25917813 PMID:28492532 NCBI chrNW_004624805:555,444...593,548
Ensembl chrNW_004624805:555,545...592,250
JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,645,768...3,648,157
Ensembl chrNW_004624730:3,645,768...3,648,165
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 chrNW_004624730:4,096,061...4,126,538
Ensembl chrNW_004624730:4,103,905...4,126,737
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 chrNW_004624730:4,064,982...4,072,172
Ensembl chrNW_004624730:4,066,222...4,071,316
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,313,773...3,314,870
Ensembl chrNW_004624730:3,313,972...3,314,626
JBrowse link
G Hyal1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:4,161,204...4,165,554
Ensembl chrNW_004624730:4,160,557...4,165,589
JBrowse link
G Hyal3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:4,154,862...4,160,635
Ensembl chrNW_004624730:4,151,688...4,160,614
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 chrNW_004624730:4,148,888...4,154,698
Ensembl chrNW_004624730:4,148,888...4,154,496
JBrowse link
G Iho1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,208,648...3,249,281
Ensembl chrNW_004624730:3,215,447...3,239,060
JBrowse link
G Impdh2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,071,132...3,075,870
Ensembl chrNW_004624730:3,071,141...3,075,882
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 chrNW_004624730:3,717,980...3,720,343
Ensembl chrNW_004624730:3,718,573...3,721,001
JBrowse link
G Ip6k1 inositol hexakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,648,461...3,704,664
Ensembl chrNW_004624730:3,648,461...3,704,646
JBrowse link
G Ip6k2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,697,098...2,734,198
Ensembl chrNW_004624730:2,697,098...2,734,636
JBrowse link
G Klhdc8b kelch domain containing 8B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,182,881...3,187,714
Ensembl chrNW_004624730:3,182,827...3,187,714
JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,145,643...3,158,781
Ensembl chrNW_004624730:3,145,643...3,159,101
JBrowse link
G LOC101719627 cytochrome b-c1 complex subunit 1, mitochondrial ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,603,301...2,613,105
Ensembl chrNW_004624730:2,603,089...2,613,828
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 chrNW_004624730:4,144,588...4,148,953 JBrowse link
G Mon1a MON1 homolog A, secretory trafficking associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,818,653...3,833,697
Ensembl chrNW_004624730:3,821,485...3,841,452
JBrowse link
G Mst1 macrophage stimulating 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,612,467...3,617,257
Ensembl chrNW_004624730:3,610,241...3,617,530
JBrowse link
G Mst1r macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,802,452...3,818,593
Ensembl chrNW_004624730:3,800,749...3,822,389
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 chrNW_004624730:4,157,714...4,159,927 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 chrNW_004624730:2,685,256...2,695,387
Ensembl chrNW_004624730:2,684,762...2,695,705
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 chrNW_004624730:3,069,083...3,070,675
Ensembl chrNW_004624730:3,069,115...3,070,675
JBrowse link
G Nicn1 nicolin 1, tubulin polyglutamylase complex subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,372,456...3,377,308
Ensembl chrNW_004624730:3,372,676...3,377,279
JBrowse link
G P4htm prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,042,699...3,056,632
Ensembl chrNW_004624730:3,043,222...3,056,645
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 chrNW_004624730:2,519,661...2,566,664
Ensembl chrNW_004624730:2,519,678...2,563,059
JBrowse link
G Prkar2a protein kinase cAMP-dependent type II regulatory subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,743,921...2,807,270 JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,123,877...3,130,787
Ensembl chrNW_004624730:3,120,958...3,130,757
JBrowse link
G Qrich1 glutamine rich 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,076,106...3,123,002 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 chrNW_004624730:3,969,445...4,000,587
Ensembl chrNW_004624730:3,969,065...4,001,335
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 chrNW_004624730:3,840,456...3,951,643 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 chrNW_004624730:3,316,122...3,361,820 JBrowse link
G Rnaseh2b ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:25741868 NCBI chrNW_004624748:3,246,707...3,339,443 JBrowse link
G Rnf123 ring finger protein 123 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,617,488...3,645,797
Ensembl chrNW_004624730:3,618,269...3,645,797
JBrowse link
G Sema3b semaphorin 3B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:4,131,329...4,142,126
Ensembl chrNW_004624730:4,131,057...4,142,374
JBrowse link
G Sema3f semaphorin 3F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:4,035,909...4,064,796
Ensembl chrNW_004624730:4,035,874...4,065,667
JBrowse link
G Shisa5 shisa family member 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,416,486...2,448,836
Ensembl chrNW_004624730:2,413,014...2,449,065
JBrowse link
G Slc25a20 solute carrier family 25 member 20 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,833,785...2,860,711
Ensembl chrNW_004624730:2,832,233...2,860,796
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 chrNW_004624730:2,639,940...2,649,358
Ensembl chrNW_004624730:2,640,208...2,649,203
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 chrNW_004624730:4,078,084...4,092,330
Ensembl chrNW_004624730:4,078,014...4,096,080
JBrowse link
G Tcta T cell leukemia translocation altered ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,362,037...3,365,621
Ensembl chrNW_004624730:3,362,039...3,364,301
JBrowse link
G Tmem89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,634,999...2,637,832
Ensembl chrNW_004624730:2,636,577...2,637,473
JBrowse link
G Traip TRAF interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,749,183...3,775,062
Ensembl chrNW_004624730:3,748,894...3,774,489
JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 | ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1, autosomal dominant OMIM
ClinVar
PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More... NCBI chrNW_004624730:2,431,270...2,433,010
Ensembl chrNW_004624730:2,431,999...2,432,959
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 chrNW_004624730:3,720,516...3,729,586
Ensembl chrNW_004624730:3,718,573...3,730,097
JBrowse link
G Ucn2 urocortin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:2,567,154...2,568,387 JBrowse link
G Usp19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,134,419...3,145,512
Ensembl chrNW_004624730:3,133,595...3,146,221
JBrowse link
G Usp4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,252,980...3,306,439
Ensembl chrNW_004624730:3,253,407...3,306,341
JBrowse link
G Wdr6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chrNW_004624730:3,058,947...3,063,709
Ensembl chrNW_004624730:3,055,610...3,063,153
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 chrNW_004624748:3,246,707...3,339,443 JBrowse link
Aicardi-Goutieres Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Actn3 actinin alpha 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,844,996...19,859,274
Ensembl chrNW_004624767:19,844,884...19,858,950
JBrowse link
G Acy3 aminoacylase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,908,849...18,914,222
Ensembl chrNW_004624767:18,909,552...18,914,076
JBrowse link
G Aip AHR interacting HSP90 co-chaperone ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,045,559...19,051,876
Ensembl chrNW_004624767:19,045,389...19,051,747
JBrowse link
G Aldh3b1 aldehyde dehydrogenase 3 family member B1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,827,938...18,844,347
Ensembl chrNW_004624767:18,827,168...18,843,273
JBrowse link
G Aldh3b2 aldehyde dehydrogenase 3 family member B2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,901,351...18,906,618
Ensembl chrNW_004624767:18,901,372...18,904,686
JBrowse link
G Ankrd13d ankyrin repeat domain 13D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,195,767...19,209,535
Ensembl chrNW_004624767:19,195,828...19,209,334
JBrowse link
G Ano1 anoctamin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,070,989...17,246,822
Ensembl chrNW_004624767:17,072,515...17,174,970
JBrowse link
G Ap5b1 adaptor related protein complex 5 subunit beta 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,644,230...20,647,520
Ensembl chrNW_004624767:20,644,205...20,647,756
JBrowse link
G B4gat1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,033,750...20,036,019
Ensembl chrNW_004624767:20,033,747...20,036,021
JBrowse link
G Banf1 barrier to autointegration nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,435,143...20,436,830
Ensembl chrNW_004624767:20,434,955...20,436,640
JBrowse link
G Bbs1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,875,597...19,893,652
Ensembl chrNW_004624767:19,875,535...19,893,694
JBrowse link
G Brms1 BRMS1 transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,036,190...20,043,871
Ensembl chrNW_004624767:20,036,256...20,043,876
JBrowse link
G Cabp2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,016,945...19,022,328
Ensembl chrNW_004624767:19,016,945...19,022,328
JBrowse link
G Capn1 calpain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:21,146,310...21,169,593
Ensembl chrNW_004624767:21,146,999...21,169,957
JBrowse link
G Carns1 carnosine synthase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,097,963...19,108,078
Ensembl chrNW_004624767:19,097,944...19,107,665
JBrowse link
G Catsper1 cation channel sperm associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,410,216...20,420,303 JBrowse link
G Ccdc85b coiled-coil domain containing 85B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,525,728...20,527,337
Ensembl chrNW_004624767:20,525,942...20,526,550
JBrowse link
G Ccdc87 coiled-coil domain containing 87 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,815,664...19,818,796
Ensembl chrNW_004624767:19,815,707...19,818,268
JBrowse link
G Ccnd1 cyclin D1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,470,310...17,483,082
Ensembl chrNW_004624767:17,469,622...17,483,191
JBrowse link
G Ccs copper chaperone for superoxide dismutase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,803,945...19,815,590
Ensembl chrNW_004624767:19,803,945...19,815,964
JBrowse link
G Cd248 CD248 molecule ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,060,917...20,063,804
Ensembl chrNW_004624767:20,060,961...20,063,594
JBrowse link
G Cdc42ep2 CDC42 effector protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:21,057,316...21,066,220
Ensembl chrNW_004624767:21,059,993...21,066,829
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 chrNW_004624767:19,028,442...19,030,580
Ensembl chrNW_004624767:19,027,912...19,030,835
JBrowse link
G Cfl1 cofilin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,574,884...20,578,413
Ensembl chrNW_004624767:20,574,966...20,579,796
JBrowse link
G Chka choline kinase alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,744,647...18,807,352
Ensembl chrNW_004624767:18,744,547...18,807,352
JBrowse link
G Clcf1 cardiotrophin like cytokine factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,142,927...19,152,572
Ensembl chrNW_004624767:19,142,852...19,153,155
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 chrNW_004624767:20,084,526...20,090,225
Ensembl chrNW_004624767:20,084,501...20,090,209
JBrowse link
G Coro1b coronin 1B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,080,541...19,087,128
Ensembl chrNW_004624767:19,080,451...19,090,419
JBrowse link
G Cpt1a carnitine palmitoyltransferase 1A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,109,011...18,161,378
Ensembl chrNW_004624767:18,109,008...18,161,639
JBrowse link
G Cst6 cystatin E/M ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,423,007...20,424,773
Ensembl chrNW_004624767:20,422,390...20,424,690
JBrowse link
G Ctsf cathepsin F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,839,602...19,844,870
Ensembl chrNW_004624767:19,838,956...19,844,877
JBrowse link
G Ctsw cathepsin W ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,533,448...20,537,706
Ensembl chrNW_004624767:20,533,487...20,538,436
JBrowse link
G CUNH11orf24 chromosome unknown C11orf24 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,601,635...18,610,913
Ensembl chrNW_004624767:18,605,295...18,611,087
JBrowse link
G CUNH11orf68 chromosome unknown C11orf68 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,501,920...20,504,158 JBrowse link
G CUNH11orf86 chromosome unknown C11orf86 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,467,734...19,481,860
Ensembl chrNW_004624767:19,468,475...19,469,512
JBrowse link
G Dpf2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:21,031,175...21,042,574
Ensembl chrNW_004624767:21,029,515...21,049,895
JBrowse link
G Dpp3 dipeptidyl peptidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,894,386...19,916,996
Ensembl chrNW_004624767:19,894,279...19,916,987
JBrowse link
G Drap1 DR1 associated protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,484,318...20,501,763
Ensembl chrNW_004624767:20,496,930...20,502,511
JBrowse link
G Efemp2 EGF containing fibulin extracellular matrix protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,559,801...20,566,326
Ensembl chrNW_004624767:20,559,795...20,566,341
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 chrNW_004624767:20,800,254...20,821,165 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 chrNW_004624767:20,436,929...20,439,796
Ensembl chrNW_004624767:20,437,053...20,439,796
JBrowse link
G Fadd Fas associated via death domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,050,929...17,059,648
Ensembl chrNW_004624767:17,055,509...17,059,705
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 chrNW_004624767:20,822,975...20,824,952
Ensembl chrNW_004624767:20,822,860...20,824,571
JBrowse link
G Fgf19 fibroblast growth factor 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,434,501...17,439,351
Ensembl chrNW_004624767:17,432,358...17,438,173
JBrowse link
G Fgf3 fibroblast growth factor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,353,989...17,360,857
Ensembl chrNW_004624767:17,353,989...17,360,705
JBrowse link
G Fgf4 fibroblast growth factor 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,381,387...17,385,698
Ensembl chrNW_004624767:17,381,791...17,383,468
JBrowse link
G Fibp FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,528,750...20,533,272
Ensembl chrNW_004624767:20,528,786...20,533,266
JBrowse link
G Fosl1 FOS like 1, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,519,054...20,525,311
Ensembl chrNW_004624767:20,519,313...20,524,554
JBrowse link
G Frmd8 FERM domain containing 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,983,658...21,003,522
Ensembl chrNW_004624767:20,983,658...21,002,673
JBrowse link
G Gal galanin and GMAP prepropeptide ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,195,288...18,210,634
Ensembl chrNW_004624767:18,204,508...18,210,416
JBrowse link
G Gal3st3 galactose-3-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,342,925...20,350,892
Ensembl chrNW_004624767:20,342,446...20,350,842
JBrowse link
G Gpr152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,075,387...19,080,184
Ensembl chrNW_004624767:19,076,064...19,077,419
JBrowse link
G Grk2 G protein-coupled receptor kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,212,218...19,231,218
Ensembl chrNW_004624767:19,210,965...19,231,082
JBrowse link
G Ighmbp2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,038,559...18,065,745
Ensembl chrNW_004624767:18,036,650...18,065,742
JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:25741868 PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,668,759...20,675,367
Ensembl chrNW_004624767:20,666,763...20,675,164
JBrowse link
G Kcnk7 potassium two pore domain channel subfamily K member 7 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,796,733...20,799,915
Ensembl chrNW_004624767:20,796,809...20,799,915
JBrowse link
G Kdm2a lysine demethylase 2A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,247,009...19,365,520
Ensembl chrNW_004624767:19,248,430...19,364,793
JBrowse link
G Klc2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,099,758...20,109,539
Ensembl chrNW_004624767:20,099,647...20,109,593
JBrowse link
G Kmt5b lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,654,682...18,716,087
Ensembl chrNW_004624767:18,655,193...18,716,252
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 chrNW_004624767:19,589,631...19,593,302
Ensembl chrNW_004624767:19,589,631...19,593,705
JBrowse link
G Lrp5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,438,165...18,551,362
Ensembl chrNW_004624767:18,438,274...18,551,338
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 chrNW_004624767:20,845,949...20,861,169
Ensembl chrNW_004624767:20,845,949...20,860,673
JBrowse link
G Lto1 LTO1 maturation factor of ABCE1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,453,894...17,460,448
Ensembl chrNW_004624767:17,454,043...17,461,430
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 chrNW_004624767:20,780,356...20,796,015
Ensembl chrNW_004624767:20,779,898...20,796,015
JBrowse link
G Mrgprd MAS related GPR family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,999,897...18,000,932 JBrowse link
G Mrgprf MAS related GPR family member F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,971,523...17,979,956
Ensembl chrNW_004624767:17,972,076...17,980,047
JBrowse link
G Mrpl11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,944,363...19,947,868
Ensembl chrNW_004624767:19,944,370...19,949,053
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 chrNW_004624767:20,567,465...20,573,622
Ensembl chrNW_004624767:20,567,465...20,572,866
JBrowse link
G Ndufs8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,822,763...18,826,907
Ensembl chrNW_004624767:18,822,526...18,827,057
JBrowse link
G Ndufv1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,934,063...18,938,652
Ensembl chrNW_004624767:18,929,879...18,939,242
JBrowse link
G Npas4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,953,746...19,959,472
Ensembl chrNW_004624767:19,954,323...19,959,360
JBrowse link
G Nudt8 nudix hydrolase 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,924,318...18,926,309 JBrowse link
G Ovol1 ovo like transcriptional repressor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,624,325...20,636,015
Ensembl chrNW_004624767:20,622,733...20,636,067
JBrowse link
G Pacs1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,123,845...20,325,191
Ensembl chrNW_004624767:20,123,725...20,324,967
JBrowse link
G Pc pyruvate carboxylase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,481,158...19,601,036
Ensembl chrNW_004624767:19,480,522...19,614,051
JBrowse link
G Pcnx3 pecanex 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,758,355...20,780,166
Ensembl chrNW_004624767:20,758,355...20,779,441
JBrowse link
G Peli3 pellino E3 ubiquitin protein ligase family member 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,920,149...19,938,892
Ensembl chrNW_004624767:19,920,687...19,929,638
JBrowse link
G Pitpnm1 phosphatidylinositol transfer protein membrane associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,031,689...19,045,062
Ensembl chrNW_004624767:19,031,625...19,045,166
JBrowse link
G Pola2 DNA polymerase alpha 2, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:21,078,881...21,101,464
Ensembl chrNW_004624767:21,078,742...21,101,367
JBrowse link
G Pold4 DNA polymerase delta 4, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,160,494...19,162,241
Ensembl chrNW_004624767:19,160,407...19,163,247
JBrowse link
G Ppp1ca protein phosphatase 1 catalytic subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,120,683...19,123,935
Ensembl chrNW_004624767:19,119,883...19,123,934
JBrowse link
G Ppp6r3 protein phosphatase 6 regulatory subunit 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,269,737...18,431,406
Ensembl chrNW_004624767:18,271,877...18,369,613
JBrowse link
G Ptprcap protein tyrosine phosphatase receptor type C associated protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,087,197...19,089,999 JBrowse link
G Rab1b RAB1B, member RAS oncogene family ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,091,120...20,098,855
Ensembl chrNW_004624767:20,090,441...20,098,913
JBrowse link
G Rad9a RAD9 checkpoint clamp component A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,123,710...19,180,505
Ensembl chrNW_004624767:19,124,517...19,176,231
JBrowse link
G Rce1 Ras converting CAAX endopeptidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,602,603...19,605,671
Ensembl chrNW_004624767:19,602,603...19,605,668
JBrowse link
G Rela RELA proto-oncogene, NF-kB subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,732,813...20,742,016
Ensembl chrNW_004624767:20,732,938...20,741,272
JBrowse link
G Rhod ras homolog family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,397,703...19,406,809
Ensembl chrNW_004624767:19,394,141...19,406,728
JBrowse link
G Rin1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,044,056...20,050,868
Ensembl chrNW_004624767:20,044,820...20,051,764
JBrowse link
G Rnaseh2c ribonuclease H2 subunit C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 | ClinVar Annotator: match by term: RNASEH2C-related condition OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chrNW_004624767:20,667,401...20,668,490
Ensembl chrNW_004624767:20,667,418...20,668,490
JBrowse link
G Rps6kb2 ribosomal protein S6 kinase B2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,090,090...19,097,123
Ensembl chrNW_004624767:19,090,067...19,096,689
JBrowse link
G Sart1 spliceosome associated factor 1, recruiter of U4/U6.U5 tri-snRNP ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,456,951...20,466,994
Ensembl chrNW_004624767:20,456,890...20,467,641
JBrowse link
G Scyl1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,861,037...20,872,127
Ensembl chrNW_004624767:20,861,039...20,872,090
JBrowse link
G Sf3b2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,326,499...20,340,204
Ensembl chrNW_004624767:20,326,499...20,340,164
JBrowse link
G Sipa1 signal-induced proliferation-associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chrNW_004624767:20,745,125...20,757,243
Ensembl chrNW_004624767:20,745,168...20,757,219
JBrowse link
G Slc25a45 solute carrier family 25 member 45 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:21,008,292...21,015,084
Ensembl chrNW_004624767:21,008,344...21,014,732
JBrowse link
G Slc29a2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,011,147...20,020,895
Ensembl chrNW_004624767:20,011,153...20,020,871
JBrowse link
G Sptbn2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,694,471...19,734,653
Ensembl chrNW_004624767:19,694,241...19,734,650
JBrowse link
G Ssh3 slingshot protein phosphatase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,186,390...19,194,624
Ensembl chrNW_004624767:19,185,251...19,194,680
JBrowse link
G Syt12 synaptotagmin 12 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,412,314...19,436,939
Ensembl chrNW_004624767:19,412,359...19,436,931
JBrowse link
G Tbc1d10c TBC1 domain family member 10C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,112,416...19,119,929
Ensembl chrNW_004624767:19,113,470...19,119,602
JBrowse link
G Tbx10 T-box transcription factor 10 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,918,933...18,923,369
Ensembl chrNW_004624767:18,919,516...18,924,547
JBrowse link
G Tcirg1 T cell immune regulator 1, ATPase H+ transporting V0 subunit a3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,809,626...18,820,360
Ensembl chrNW_004624767:18,809,689...18,820,390
JBrowse link
G Tesmin testis expressed metallothionein like protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:18,162,971...18,201,190
Ensembl chrNW_004624767:18,162,578...18,201,761
JBrowse link
G Tigd3 tigger transposable element derived 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:21,026,778...21,029,599
Ensembl chrNW_004624767:21,026,887...21,029,559
JBrowse link
G Tmem134 transmembrane protein 134 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,059,642...19,064,267
Ensembl chrNW_004624767:19,059,726...19,064,031
JBrowse link
G Tmem151a transmembrane protein 151A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,072,609...20,077,454
Ensembl chrNW_004624767:20,072,493...20,078,233
JBrowse link
G Tpcn2 two pore segment channel 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:17,877,791...17,944,190
Ensembl chrNW_004624767:17,918,080...17,944,653
JBrowse link
G Tsga10ip testis specific 10 interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,469,228...20,478,733 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 chrNW_004624767:18,859,990...18,869,083
Ensembl chrNW_004624767:18,860,017...18,868,581
JBrowse link
G Yif1a Yip1 interacting factor homolog A, membrane trafficking protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:20,079,394...20,084,170
Ensembl chrNW_004624767:20,079,233...20,084,170
JBrowse link
G Zdhhc24 zinc finger DHHC-type containing 24 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chrNW_004624767:19,846,848...19,867,591
Ensembl chrNW_004624767:19,859,483...19,869,380
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 chrNW_004624767:20,825,259...20,826,782
Ensembl chrNW_004624767:20,825,259...20,826,669
JBrowse link
Aicardi-Goutieres Syndrome 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best2 bestrophin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:372,181...377,411
Ensembl chrNW_004624901:372,205...376,958
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:707,322...932,658
Ensembl chrNW_004624901:708,234...932,643
JBrowse link
G Calr calreticulin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:511,295...515,208
Ensembl chrNW_004624901:511,052...516,757
JBrowse link
G Dand5 DAN domain BMP antagonist family member 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:534,828...538,923
Ensembl chrNW_004624901:535,137...538,384
JBrowse link
G Dhps deoxyhypusine synthase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:315,096...319,411
Ensembl chrNW_004624901:315,096...319,380
JBrowse link
G Dnase2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:464,211...466,979
Ensembl chrNW_004624901:464,223...467,161
JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:492,673...505,815
Ensembl chrNW_004624901:492,817...505,911
JBrowse link
G Fbxw9 F-box and WD repeat domain containing 9 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:326,657...333,203
Ensembl chrNW_004624901:326,428...334,035
JBrowse link
G Gadd45gip1 GADD45G interacting protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:523,744...526,240
Ensembl chrNW_004624901:523,771...526,448
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:474,836...479,674
Ensembl chrNW_004624901:475,073...479,292
JBrowse link
G Get3 guided entry of tail-anchored proteins factor 3, ATPase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:361,364...368,249
Ensembl chrNW_004624901:361,352...368,725
JBrowse link
G Hook2 hook microtubule tethering protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:379,952...391,727
Ensembl chrNW_004624901:378,967...392,027
JBrowse link
G Ier2 immediate early response 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:684,313...686,488
Ensembl chrNW_004624901:684,966...685,652
JBrowse link
G Junb JunB proto-oncogene, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:402,969...404,741
Ensembl chrNW_004624901:403,235...404,269
JBrowse link
G Klf1 KLF transcription factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:467,937...471,917
Ensembl chrNW_004624901:468,662...471,500
JBrowse link
G Lyl1 LYL1 basic helix-loop-helix family member ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:645,263...648,550
Ensembl chrNW_004624901:645,924...649,100
JBrowse link
G Man2b1 mannosidase alpha class 2B member 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:285,981...307,177
Ensembl chrNW_004624901:285,978...307,249
JBrowse link
G Mast1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:429,191...463,534
Ensembl chrNW_004624901:432,836...467,161
JBrowse link
G Nacc1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:658,861...676,322
Ensembl chrNW_004624901:659,977...676,322
JBrowse link
G Nfix nuclear factor I X ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:551,277...645,435
Ensembl chrNW_004624901:550,931...646,417
JBrowse link
G Prdx2 peroxiredoxin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:407,240...410,902
Ensembl chrNW_004624901:406,257...410,866
JBrowse link
G Rad23a RAD23 homolog A, nucleotide excision repair protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:515,761...522,845
Ensembl chrNW_004624901:516,855...523,337
JBrowse link
G Rnaseh2a ribonuclease H2 subunit A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 | ClinVar Annotator: match by term: RNASEH2A-related condition OMIM
ClinVar
PMID:9536098 PMID:10371528 PMID:10699052 PMID:11854167 PMID:15870678 More... NCBI chrNW_004624901:411,023...419,831
Ensembl chrNW_004624901:411,078...419,831
JBrowse link
G Rtbdn retbindin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:421,624...426,655 JBrowse link
G Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:478,860...491,577 JBrowse link
G Tnpo2 transportin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:334,277...351,653
Ensembl chrNW_004624901:334,154...352,060
JBrowse link
G Trir telomerase RNA component interacting RNase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:356,151...360,001 JBrowse link
G Trmt1 tRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:650,444...659,921
Ensembl chrNW_004624901:650,202...660,076
JBrowse link
G Wdr83 WD repeat domain 83 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:310,709...315,302
Ensembl chrNW_004624901:310,709...315,054
JBrowse link
G Wdr83os WD repeat domain 83 opposite strand ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chrNW_004624901:309,058...310,663
Ensembl chrNW_004624901:309,058...310,686
JBrowse link
Aicardi-Goutieres Syndrome 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Blcap BLCAP apoptosis inducing factor ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004624842:2,118,996...2,127,981
Ensembl chrNW_004624842:2,118,955...2,129,291
JBrowse link
G Ctnnbl1 catenin beta like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004624842:1,764,763...1,949,691
Ensembl chrNW_004624842:1,764,067...1,949,787
JBrowse link
G Ghrh growth hormone releasing hormone ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004625146:5,484...8,763
Ensembl chrNW_004625146:6,381...13,318
JBrowse link
G Manbal mannosidase beta like ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004624842:2,285,820...2,312,335
Ensembl chrNW_004624842:2,285,706...2,312,540
JBrowse link
G Nnat neuronatin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004624842:2,122,968...2,125,490 JBrowse link
G Rbl1 RB transcriptional corepressor like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004624842:2,495,015...2,565,220
Ensembl chrNW_004624842:2,494,911...2,563,421
JBrowse link
G Rpn2 ribophorin II ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004624842:2,349,837...2,419,262
Ensembl chrNW_004624842:2,349,707...2,419,462
JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chrNW_004624842:2,591,016...2,649,746
Ensembl chrNW_004624842:2,591,148...2,647,742
JBrowse link
G Src SRC proto-oncogene, non-receptor tyrosine kinase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chrNW_004624842:2,212,561...2,260,514
Ensembl chrNW_004624842:2,211,020...2,230,132
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 chrNW_004624842:2,649,943...2,668,957
Ensembl chrNW_004624842:2,626,897...2,668,822
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 chrNW_004624885:2,783,058...2,839,688
Ensembl chrNW_004624885:2,812,448...2,839,693
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:9536098 PMID:16199547 PMID:17576681 PMID:19264985 PMID:19324880 More... NCBI chrNW_004624732:3,187,791...3,248,795
Ensembl chrNW_004624732:3,187,791...3,250,981
JBrowse link
Aicardi-Goutieres Syndrome 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lsm11 LSM11, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 OMIM
ClinVar
PMID:33230297 NCBI chrNW_004624733:31,720,054...31,730,809
Ensembl chrNW_004624733:31,723,022...31,730,724
JBrowse link
Aicardi-Goutieres Syndrome 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G CUNH12orf57 chromosome unknown C12orf57 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 ClinVar PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297 NCBI chrNW_004624860:3,578,147...3,580,059
Ensembl chrNW_004624860:3,578,336...3,580,059
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 6 subunit ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chrNW_004624780:462,195...477,568 JBrowse link
G Chrnb3 cholinergic receptor nicotinic beta 3 subunit ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chrNW_004624780:481,836...510,192
Ensembl chrNW_004624780:487,006...510,056
JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar NCBI chrNW_004624731:14,121,855...14,139,344
Ensembl chrNW_004624731:14,122,608...14,138,121
JBrowse link
G Hook3 hook microtubule tethering protein 3 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chrNW_004624780:127,718...237,701
Ensembl chrNW_004624780:127,090...235,648
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:25741868 NCBI chrNW_004624752:9,072,471...9,088,289
Ensembl chrNW_004624752:9,072,512...9,088,593
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 3 ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004624774:9,432,765...9,469,690
Ensembl chrNW_004624774:9,432,541...9,469,881
JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chrNW_004624780:67,160...127,620
Ensembl chrNW_004624780:66,049...126,383
JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: Ferrocalcinosis, cerebrovascular | ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 | ClinVar Annotator: match by term: SLC20A2-related condition OMIM
ClinVar
PMID:10441584 PMID:11344012 PMID:11810290 PMID:15596772 PMID:16199547 More... NCBI chrNW_004624780:725,992...833,419
Ensembl chrNW_004624780:779,900...832,137
JBrowse link
G Smim19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:25741868 PMID:27726124 NCBI chrNW_004624780:716,907...726,607 JBrowse link
G Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chrNW_004624780:41,137...57,798
Ensembl chrNW_004624780:39,472...58,138
JBrowse link
Idiopathic Basal Ganglia Calcification 10 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cmpk2 cytidine/uridine monophosphate kinase 2 ISO ClinVar Annotator: match by term: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 10, AUTOSOMAL RECESSIVE OMIM
ClinVar
PMID:36443312 NCBI chrNW_004624846:3,417,672...3,432,207
Ensembl chrNW_004624846:3,417,626...3,430,516
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 ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 4 OMIM
ClinVar
PMID:9536098 PMID:15054839 PMID:16199547 PMID:17576681 PMID:20301594 More... NCBI chrNW_004624774:9,432,765...9,469,690
Ensembl chrNW_004624774:9,432,541...9,469,881
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 subunit B ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 5 OMIM
ClinVar
PMID:20301594 PMID:21409505 PMID:23913003 PMID:25211641 PMID:25741868 More... NCBI chrNW_004624752:9,072,471...9,088,289
Ensembl chrNW_004624752:9,072,512...9,088,593
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 ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 | ClinVar Annotator: match by term: XPR1-related condition | ClinVar Annotator: match by term: XPR1-related primary familial brain calcification OMIM
ClinVar
PMID:886353 PMID:25741868 PMID:25938945 PMID:28492532 PMID:31003906 NCBI chrNW_004624771:941,835...1,147,314
Ensembl chrNW_004624771:942,036...1,141,286
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 chrNW_004624736:38,775,648...38,786,112 JBrowse link
Idiopathic Basal Ganglia Calcification 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jam2 junctional 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 chrNW_004624745:13,704,031...13,778,749
Ensembl chrNW_004624745:13,704,652...13,776,172
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 chrNW_004624824:1,255,274...1,289,413
Ensembl chrNW_004624824:1,264,660...1,286,925
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 chrNW_004624732:3,187,791...3,248,795
Ensembl chrNW_004624732:3,187,791...3,250,981
JBrowse link
immunodeficiency 38 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
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 chrNW_004624818:8,302,409...8,315,878
Ensembl chrNW_004624818:8,302,957...8,314,590
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 chrNW_004624818:7,288,206...7,289,499
Ensembl chrNW_004624818:7,288,304...7,289,434
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 chrNW_004624818:8,475,453...8,508,818
Ensembl chrNW_004624818:8,476,562...8,508,786
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 chrNW_004624818:8,217,922...8,221,907
Ensembl chrNW_004624818:8,219,101...8,221,907
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 chrNW_004624818:6,949,484...6,966,195
Ensembl chrNW_004624818:6,949,484...6,966,237
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 chrNW_004624818:8,246,636...8,248,002
Ensembl chrNW_004624818:8,246,646...8,248,005
JBrowse link
G B3galt6 beta-1,3-galactosyltransferase 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 chrNW_004624818:8,360,321...8,361,975
Ensembl chrNW_004624818:8,360,849...8,361,817
JBrowse link
G C1qtnf12 C1q and TNF 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 chrNW_004624818:8,347,292...8,352,160
Ensembl chrNW_004624818:8,348,758...8,352,150
JBrowse link
G Calml6 calmodulin like 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 chrNW_004624818:7,920,401...7,921,517 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 chrNW_004624818:6,755,562...6,767,446 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 chrNW_004624818:8,233,547...8,242,547
Ensembl chrNW_004624818:8,233,574...8,242,542
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 chrNW_004624818:6,712,616...6,737,377
Ensembl chrNW_004624818:6,716,695...6,737,883
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 chrNW_004624818:7,876,727...7,916,762
Ensembl chrNW_004624818:7,882,658...7,918,521
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 chrNW_004624818:8,283,925...8,287,410
Ensembl chrNW_004624818:8,283,926...8,287,274
JBrowse link
G CUNH1orf159 chromosome unknown C1orf159 homolog 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 chrNW_004624818:8,443,253...8,461,489
Ensembl chrNW_004624818:8,443,447...8,461,489
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 chrNW_004624818:8,267,111...8,283,755
Ensembl chrNW_004624818:8,267,128...8,278,725
JBrowse link
G Faap20 FA 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 chrNW_004624818:7,747,602...7,756,968 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 chrNW_004624818:8,120,230...8,126,439
Ensembl chrNW_004624818:8,120,230...8,122,171
JBrowse link
G Gabrd gamma-aminobutyric acid type 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 chrNW_004624818:7,856,797...7,864,552
Ensembl chrNW_004624818:7,856,797...7,864,540
JBrowse link
G Gnb1 G protein subunit 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 chrNW_004624818:7,937,061...8,002,798
Ensembl chrNW_004624818:7,936,932...8,003,433
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 chrNW_004624818:7,516,279...7,517,654
Ensembl chrNW_004624818:7,516,189...7,518,734
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 chrNW_004624818:8,287,539...8,299,456
Ensembl chrNW_004624818:8,289,929...8,299,254
JBrowse link
G Isg15 ISG15 ubiquitin like modifier ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency OMIM
ClinVar
PMID:9536098 PMID:9683594 PMID:10862081 PMID:17576681 PMID:19492091 More... NCBI chrNW_004624818:8,510,657...8,511,749 JBrowse link
G Klhl17 kelch like family member 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 chrNW_004624818:8,545,562...8,551,348
Ensembl chrNW_004624818:8,546,137...8,550,603
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 chrNW_004624818:6,741,029...6,749,919
Ensembl chrNW_004624818:6,740,983...6,750,877
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 chrNW_004624818:6,867,706...6,945,383 JBrowse link
G Mib2 MIB 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 chrNW_004624818:8,078,677...8,091,448
Ensembl chrNW_004624818:8,077,851...8,099,547
JBrowse link
G Mmel1 membrane metalloendopeptidase 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 chrNW_004624818:7,451,213...7,481,988
Ensembl chrNW_004624818:7,453,177...7,485,439
JBrowse link
G Mmp23b matrix metallopeptidase 23B 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 chrNW_004624818:8,074,977...8,077,849
Ensembl chrNW_004624818:8,075,725...8,077,838
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 chrNW_004624818:7,616,542...7,667,487
Ensembl chrNW_004624818:7,616,738...7,667,130
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 chrNW_004624818:8,227,947...8,231,006
Ensembl chrNW_004624818:8,228,005...8,231,009
JBrowse link
G Mxra8 matrix remodeling 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 chrNW_004624818:8,258,707...8,264,821
Ensembl chrNW_004624818:8,261,758...8,264,026
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 chrNW_004624818:8,006,465...8,025,664 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 chrNW_004624818:8,551,379...8,563,760
Ensembl chrNW_004624818:8,551,462...8,563,529
JBrowse link
G Pank4 pantothenate kinase 4 (inactive) 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 chrNW_004624818:7,519,347...7,532,116
Ensembl chrNW_004624818:7,519,382...7,532,108
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 chrNW_004624818:7,598,467...7,605,067
Ensembl chrNW_004624818:7,597,729...7,605,322
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 chrNW_004624818:7,533,889...7,595,887
Ensembl chrNW_004624818:7,534,265...7,588,288
JBrowse link
G Plekhn1 pleckstrin homology domain containing N1 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 chrNW_004624818:8,537,044...8,545,393
Ensembl chrNW_004624818:8,537,631...8,544,676
JBrowse link
G Prdm16 PR/SET domain 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 chrNW_004624818:6,978,436...7,258,366
Ensembl chrNW_004624818:6,978,436...7,258,357
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 chrNW_004624818:7,758,192...7,846,950
Ensembl chrNW_004624818:7,759,770...7,847,208
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 chrNW_004624818:7,478,680...7,485,431
Ensembl chrNW_004624818:7,483,001...7,485,431
JBrowse link
G Pusl1 pseudouridine 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 chrNW_004624818:8,299,449...8,302,333
Ensembl chrNW_004624818:8,299,449...8,302,320
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 chrNW_004624818:7,604,854...7,616,457
Ensembl chrNW_004624818:7,605,105...7,616,282
JBrowse link
G Rnf223 ring finger protein 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 chrNW_004624818:8,461,662...8,467,044
Ensembl chrNW_004624818:8,461,575...8,467,038
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 chrNW_004624818:8,563,376...8,581,028
Ensembl chrNW_004624818:8,563,879...8,581,015
JBrowse link
G Scnn1d sodium channel epithelial 1 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 chrNW_004624818:8,316,300...8,321,995 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 chrNW_004624818:8,362,107...8,371,565
Ensembl chrNW_004624818:8,365,359...8,371,386
JBrowse link
G Ski SKI proto-oncogene 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 chrNW_004624818:7,674,184...7,736,249
Ensembl chrNW_004624818:7,673,203...7,736,255
JBrowse link
G Smim1 small integral membrane protein 1 (Vel blood group) 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 chrNW_004624818:6,749,893...6,755,460
Ensembl chrNW_004624818:6,752,595...6,753,126
JBrowse link
G Ssu72 SSU72 homolog, RNA polymerase II CTD phosphatase 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 chrNW_004624818:8,147,173...8,177,682
Ensembl chrNW_004624818:8,147,185...8,177,684
JBrowse link
G Tas1r3 taste 1 receptor 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 chrNW_004624818:8,279,161...8,282,304
Ensembl chrNW_004624818:8,279,161...8,282,304
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 chrNW_004624818:8,178,425...8,183,185
Ensembl chrNW_004624818:8,178,451...8,183,043
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 chrNW_004624818:7,916,889...7,920,138
Ensembl chrNW_004624818:7,918,625...7,920,138
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 chrNW_004624818:8,213,876...8,217,899
Ensembl chrNW_004624818:8,215,265...8,216,922
JBrowse link
G Tnfrsf14 TNF receptor superfamily member 14 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 chrNW_004624818:7,491,473...7,505,185 JBrowse link
G Tnfrsf18 TNF 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 chrNW_004624818:8,376,204...8,380,266
Ensembl chrNW_004624818:8,378,131...8,379,974
JBrowse link
G Tnfrsf4 TNF 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 chrNW_004624818:8,372,092...8,376,108
Ensembl chrNW_004624818:8,373,810...8,376,204
JBrowse link
G Tp73 tumor protein p73 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 chrNW_004624818:6,775,588...6,817,187
Ensembl chrNW_004624818:6,775,599...6,809,289
JBrowse link
G Tprg1l tumor protein p63 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 chrNW_004624818:6,850,479...6,857,979
Ensembl chrNW_004624818:6,850,486...6,858,136
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 chrNW_004624818:7,435,250...7,447,905
Ensembl chrNW_004624818:7,427,787...7,447,303
JBrowse link
G Ttll10 tubulin tyrosine ligase like 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 chrNW_004624818:8,382,673...8,389,891 JBrowse link
G Ube2j2 ubiquitin conjugating enzyme E2 J2 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 chrNW_004624818:8,326,592...8,347,108
Ensembl chrNW_004624818:8,326,781...8,347,370
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 chrNW_004624818:8,204,223...8,208,398
Ensembl chrNW_004624818:8,204,749...8,208,358
JBrowse link
G Wrap73 WD repeat containing, antisense to TP73 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 chrNW_004624818:6,838,261...6,850,115
Ensembl chrNW_004624818:6,838,376...6,850,020
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14230
    Nutritional and Metabolic Diseases 6954
      disease of metabolism 6954
        mineral metabolism disease 899
          calcium metabolism disease 584
            calcinosis 517
              basal ganglia calcification 301
                Aicardi-Goutieres syndrome + 222
                Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 0
                Idiopathic Basal Ganglia Calcification 1 10
                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 64
Path 2
Term Annotations click to browse term
  disease 14230
    Nutritional and Metabolic Diseases 6954
      disease of metabolism 6954
        acquired metabolic disease 2113
          mineral metabolism disease 899
            calcium metabolism disease 584
              calcinosis 517
                basal ganglia calcification 301
                  Aicardi-Goutieres syndrome + 222
                  Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 0
                  Idiopathic Basal Ganglia Calcification 1 10
                  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 64
paths to the root