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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 ISO OMIM:114100 | OMIM:213600 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr10:32,436,349...32,443,971
Ensembl chr10:32,436,656...32,443,968
JBrowse link
G PDGFRB platelet derived growth factor receptor beta ISO OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647
JBrowse link
G SLC20A2 solute carrier family 20 member 2 ISO OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr17:11,435,435...11,549,623
Ensembl chr17:11,435,442...11,486,581
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 chr 4:95,154,230...95,197,308
Ensembl chr 4:95,154,357...95,197,304
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 chr13:31,159,849...31,178,716
Ensembl chr13:31,159,843...31,178,715
JBrowse link
G IFIH1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chr15:68,930,998...68,985,145
Ensembl chr15:68,928,254...68,985,083
JBrowse link
G KAT5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:25741868 NCBI chr 2:6,560,544...6,572,461
Ensembl chr 2:6,560,513...6,572,466
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 chr 2:66,192,785...66,208,417
Ensembl chr 2:66,193,197...66,207,697
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 chr11:16,825,799...16,911,959
Ensembl chr11:16,825,128...16,911,969
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 chr 2:6,563,093...6,564,281
Ensembl chr 2:6,563,091...6,564,274
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 chr17:40,117,348...40,171,935
Ensembl chr17:40,107,462...40,171,878
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 chr17:40,105,500...40,118,743
Ensembl chr17:40,109,210...40,120,399
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 chr13:31,177,604...31,180,764
Ensembl chr13:31,179,291...31,180,747
JBrowse link
G USP18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 5:70,183,321...70,227,990
Ensembl chr 5:70,183,308...70,229,572
JBrowse link
Aicardi-Goutieres Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G AMT aminomethyltransferase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,995,600...32,002,514
Ensembl chr13:31,995,595...32,002,470
JBrowse link
G APEH acylaminoacyl-peptide hydrolase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,205,863...32,214,517
Ensembl chr13:32,205,609...32,214,518
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 chr13:31,570,026...31,623,833
Ensembl chr13:31,570,088...31,625,226
JBrowse link
G ARIH2OS ARIH2 opposite strand lncRNA ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,569,765...31,570,548 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 chr13:31,159,849...31,178,716
Ensembl chr13:31,159,843...31,178,715
JBrowse link
G BSN bassoon presynaptic cytomatrix protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,106,967...32,203,461
Ensembl chr13:32,159,630...32,195,578
JBrowse link
G C13H3orf62 chromosome 13 C3orf62 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,840,281...31,848,825
Ensembl chr13:31,845,055...31,848,482
JBrowse link
G C13H3orf84 chromosome 13 C3orf84 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,780,619...31,790,704
Ensembl chr13:31,780,277...31,792,782
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 chr13:32,381,122...32,401,480
Ensembl chr13:32,381,128...32,392,987
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 chr13:31,763,802...31,771,260
Ensembl chr13:31,767,495...31,771,218
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 chr13:32,322,030...32,329,530
Ensembl chr13:32,322,034...32,329,337
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 chr13:31,331,563...31,357,374
Ensembl chr13:31,331,574...31,357,469
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 chr13:31,262,750...31,295,112 JBrowse link
G DAG1 dystroglycan 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,028,019...32,092,450
Ensembl chr13:32,029,522...32,092,450
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 chr13:31,650,880...31,656,320
Ensembl chr13:31,650,967...31,656,306
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 chr10:46,820,016...46,863,848
Ensembl chr10:46,820,053...46,868,028
JBrowse link
G GMPPB GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,246,471...32,253,162
Ensembl chr13:32,248,268...32,253,155
Ensembl chr13:32,248,268...32,253,155
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 chr13:32,705,326...32,733,804
Ensembl chr13:32,705,321...32,733,794
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 chr13:32,671,377...32,678,394
Ensembl chr13:32,671,432...32,678,391
JBrowse link
G GPX1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,916,269...31,917,337
Ensembl chr13:31,916,246...31,917,433
JBrowse link
G HYAL1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,798,135...32,800,705
Ensembl chr13:32,797,681...32,800,793
JBrowse link
G HYAL1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,793,784...32,794,650
Ensembl chr13:32,793,572...32,794,700
JBrowse link
G HYAL3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,790,843...32,796,995
Ensembl chr13:32,790,850...32,796,563
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 chr13:32,756,671...32,790,763
Ensembl chr13:32,756,680...32,790,672
JBrowse link
G IHO1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,802,963...31,836,911
Ensembl chr13:31,802,948...31,837,912
JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,658,642...31,663,660
Ensembl chr13:31,658,650...31,663,552
JBrowse link
G IMPDH2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,663,812...31,714,523
Ensembl chr13:31,658,642...31,714,455
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 chr13:32,329,872...32,332,167 JBrowse link
G IP6K1 inositol hexakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,253,515...32,320,005
Ensembl chr13:32,253,515...32,319,988
JBrowse link
G IP6K2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,379,516...31,406,989
Ensembl chr13:31,379,521...31,406,911
JBrowse link
G KLHDC8B kelch domain containing 8B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,775,339...31,780,483
Ensembl chr13:31,775,694...31,780,484
JBrowse link
G LAMB2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,738,282...31,750,623
Ensembl chr13:31,738,286...31,750,833
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 chr13:32,752,515...32,757,042
Ensembl chr13:32,753,199...32,757,034
JBrowse link
G MIR191 microRNA mir-191 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,655,484...31,655,563
Ensembl chr13:31,655,484...31,655,563
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 chr13:32,426,733...32,437,735
Ensembl chr13:32,426,736...32,437,862
JBrowse link
G MST1 macrophage stimulating 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,214,934...32,220,045
Ensembl chr13:32,214,937...32,219,902
JBrowse link
G MST1R macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,401,623...32,423,614
Ensembl chr13:32,409,555...32,421,920
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 chr13:31,366,574...31,377,684
Ensembl chr13:31,363,765...31,377,672
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 chr13:31,656,941...31,658,087
Ensembl chr13:31,656,948...31,659,220
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 chr13:32,002,658...32,007,266
Ensembl chr13:32,002,660...32,007,217
JBrowse link
G P4HTM prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,627,230...31,642,251
Ensembl chr13:31,627,225...31,642,399
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 chr13:31,212,553...31,259,785
Ensembl chr13:31,212,552...31,259,749
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 chr13:31,427,786...31,517,005
Ensembl chr13:31,426,213...31,517,122
JBrowse link
G QARS1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,715,686...31,723,200
Ensembl chr13:31,715,689...31,723,197
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 chr13:32,579,780...32,612,716
Ensembl chr13:32,579,983...32,612,710
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 chr13:32,444,944...32,569,818
Ensembl chr13:32,444,963...32,569,815
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 chr13:31,918,484...31,991,207
Ensembl chr13:31,918,834...31,986,607
JBrowse link
G RNASEH2B ribonuclease H2 subunit B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:25741868 NCBI chr11:16,825,799...16,911,959
Ensembl chr11:16,825,128...16,911,969
JBrowse link
G RNF123 ring finger protein 123 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,216,761...32,250,742
Ensembl chr13:32,218,384...32,250,739
JBrowse link
G SEMA3B semaphorin 3B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,737,100...32,749,633
Ensembl chr13:32,740,802...32,749,621
JBrowse link
G SEMA3F semaphorin 3F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,641,376...32,671,231
Ensembl chr13:32,641,424...32,671,223
JBrowse link
G SHISA5 shisa family member 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,180,844...31,205,724
Ensembl chr13:31,180,846...31,205,731
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 chr13:31,523,820...31,553,289
Ensembl chr13:31,523,821...31,553,286
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 chr13:31,319,287...31,330,649
Ensembl chr13:31,317,877...31,330,580
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 chr13:32,683,131...32,699,803
Ensembl chr13:32,683,126...32,704,535
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 chr13:31,991,408...31,995,274
Ensembl chr13:31,991,610...31,998,129
JBrowse link
G TMEM89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,315,148...31,316,849
Ensembl chr13:31,315,737...31,316,740
JBrowse link
G TRAIP TRAF interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:32,332,336...32,380,988
Ensembl chr13:32,345,599...32,379,766
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 ClinVar
OMIM
PMID:1821204 PMID:3174024 PMID:3580372 PMID:16845398 PMID:16960810 More... NCBI chr13:31,177,604...31,180,764
Ensembl chr13:31,179,291...31,180,747
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 chr13:32,330,536...32,341,300
Ensembl chr13:32,332,367...32,341,217
JBrowse link
G UCN2 urocortin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,261,196...31,261,824
Ensembl chr13:31,261,196...31,261,534
JBrowse link
G UQCRC1 ubiquinol-cytochrome c reductase core protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,298,449...31,308,719
Ensembl chr13:31,298,449...31,309,516
JBrowse link
G USP19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,726,668...31,738,135
Ensembl chr13:31,726,672...31,737,981
JBrowse link
G USP4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,844,780...31,904,418
Ensembl chr13:31,848,851...31,904,243
JBrowse link
G WDR6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr13:31,642,207...31,651,367
Ensembl chr13:31,642,325...31,651,361
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 chr11:16,825,799...16,911,959
Ensembl chr11:16,825,128...16,911,969
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 chr 2:5,860,386...5,873,779
Ensembl chr 2:5,860,391...5,874,124
JBrowse link
G ACY3 aminoacylase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,932,836...4,938,249 JBrowse link
G AIP aryl hydrocarbon receptor interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,042,883...5,048,885
Ensembl chr 2:5,041,990...5,048,781
JBrowse link
G ALDH3B1 aldehyde dehydrogenase 3 family member B1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,868,561...4,889,179 JBrowse link
G ANKRD13D ankyrin repeat domain 13D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,194,010...5,207,057
Ensembl chr 2:5,193,153...5,206,993
JBrowse link
G ANO1 anoctamin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:3,202,269...3,373,409
Ensembl chr 2:3,202,166...3,373,411
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 chr 2:6,538,784...6,551,337
Ensembl chr 2:6,547,998...6,553,761
JBrowse link
G B4GAT1 beta-1,4-glucuronyltransferase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,043,594...6,045,220
Ensembl chr 2:6,043,508...6,045,817
JBrowse link
G BANF1 BAF nuclear assembly factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,333,451...6,335,326
Ensembl chr 2:6,333,453...6,334,839
JBrowse link
G BBS1 Bardet-Biedl syndrome 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,886,989...5,906,468
Ensembl chr 2:5,886,990...5,906,388
JBrowse link
G BRMS1 BRMS1 transcriptional repressor and anoikis regulator ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,046,077...6,053,672
Ensembl chr 2:6,046,098...6,053,667
JBrowse link
G C2H11orf24 chromosome 2 C11orf24 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,682,204...4,692,016 JBrowse link
G C2H11orf68 chromosome 2 C11orf68 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,411,946...6,414,286
Ensembl chr 2:6,411,833...6,414,280
JBrowse link
G C2H11orf86 chromosome 2 C11orf86 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,466,633...5,469,128
Ensembl chr 2:5,467,059...5,469,209
JBrowse link
G CABP2 calcium binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,014,888...5,020,705
Ensembl chr 2:5,014,810...5,020,775
JBrowse link
G CABP4 calcium binding protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,068,535...5,079,482
Ensembl chr 2:5,068,037...5,072,188
JBrowse link
G CAPN1 calpain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,997,513...7,024,410
Ensembl chr 2:6,997,985...7,022,684
JBrowse link
G CARNS1 carnosine synthase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,097,238...5,105,697
Ensembl chr 2:5,097,243...5,105,696
JBrowse link
G CATSPER1 cation channel sperm associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,312,906...6,321,690
Ensembl chr 2:6,312,906...6,321,690
JBrowse link
G CCDC85B coiled-coil domain containing 85B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,436,787...6,437,828
Ensembl chr 2:6,436,794...6,437,808
JBrowse link
G CCDC87 coiled-coil domain containing 87 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,833,431...5,838,922
Ensembl chr 2:5,833,464...5,836,686
JBrowse link
G CCND1 cyclin D1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:3,621,242...3,633,380
Ensembl chr 2:3,621,246...3,633,296
JBrowse link
G CCS copper chaperone for superoxide dismutase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,819,471...5,833,263
Ensembl chr 2:5,819,472...5,836,064
JBrowse link
G CD248 CD248 molecule ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,070,885...6,073,518
Ensembl chr 2:6,070,910...6,073,509
JBrowse link
G CDC42EP2 CDC42 effector protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,897,497...6,904,040
Ensembl chr 2:6,895,847...6,904,040
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 chr 2:5,025,256...5,027,766
Ensembl chr 2:5,025,600...5,027,764
JBrowse link
G CFL1 cofilin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 2:6,471,558...6,475,019
Ensembl chr 2:6,469,254...6,475,035
JBrowse link
G CHKA choline kinase alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,788,508...4,846,667
Ensembl chr 2:4,788,213...4,846,665
JBrowse link
G CLCF1 cardiotrophin like cytokine factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,142,315...5,152,750
Ensembl chr 2:5,143,313...5,152,692
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 chr 2:6,102,347...6,109,424 JBrowse link
G CORO1B coronin 1B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,081,294...5,086,698
Ensembl chr 2:5,080,660...5,086,690
JBrowse link
G CPT1A carnitine palmitoyltransferase 1A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,250,642...4,293,914
Ensembl chr 2:4,233,099...4,293,911
JBrowse link
G CST6 cystatin E/M ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,323,737...6,325,519
Ensembl chr 2:6,323,740...6,325,415
JBrowse link
G CTSF cathepsin F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,855,083...5,860,258
Ensembl chr 2:5,855,111...5,860,251
JBrowse link
G CTSW cathepsin W ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,446,105...6,450,357
Ensembl chr 2:6,446,105...6,450,360
JBrowse link
G DPF2 double PHD fingers 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,870,331...6,886,548
Ensembl chr 2:6,870,332...6,886,467
JBrowse link
G DPP3 dipeptidyl peptidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,907,251...5,948,019
Ensembl chr 2:5,907,252...5,946,734
JBrowse link
G DRAP1 DR1 associated protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,409,623...6,411,935
Ensembl chr 2:6,409,655...6,412,395
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 chr 2:6,455,155...6,463,493
Ensembl chr 2:6,450,332...6,463,486
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 chr 2:6,662,460...6,678,721
Ensembl chr 2:6,662,463...6,678,888
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 chr 2:6,334,882...6,340,125
Ensembl chr 2:6,334,197...6,340,112
JBrowse link
G FADD Fas associated via death domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:3,191,718...3,194,820
Ensembl chr 2:3,185,675...3,194,818
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 chr 2:6,680,832...6,682,506
Ensembl chr 2:6,681,490...6,682,511
JBrowse link
G FGF19 fibroblast growth factor 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:3,583,027...3,586,985
Ensembl chr 2:3,582,828...3,587,752
JBrowse link
G FGF3 fibroblast growth factor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:3,489,208...3,496,532
Ensembl chr 2:3,489,009...3,497,533
JBrowse link
G FGF4 fibroblast growth factor 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:3,527,113...3,529,011
Ensembl chr 2:3,526,914...3,529,874
JBrowse link
G FIBP FGF1 intracellular binding protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,440,483...6,445,927
Ensembl chr 2:6,440,390...6,445,927
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 chr 2:6,430,158...6,436,173
Ensembl chr 2:6,430,153...6,436,173
JBrowse link
G FRMD8 FERM domain containing 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,822,964...6,843,941
Ensembl chr 2:6,822,967...6,843,470
JBrowse link
G GAL galanin and GMAP prepropeptide ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,351,113...4,357,167
Ensembl chr 2:4,351,113...4,356,647
JBrowse link
G GAL3ST3 galactose-3-O-sulfotransferase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,297,797...6,306,200
Ensembl chr 2:6,297,855...6,306,198
JBrowse link
G GPR152 G protein-coupled receptor 152 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,074,079...5,077,503
Ensembl chr 2:5,075,236...5,076,651
JBrowse link
G GRK2 G protein-coupled receptor kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,209,435...5,227,543
Ensembl chr 2:5,209,439...5,227,758
JBrowse link
G IGHMBP2 immunoglobulin mu DNA binding protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,169,510...4,194,699
Ensembl chr 2:4,171,344...4,194,525
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 chr 2:6,560,544...6,572,461
Ensembl chr 2:6,560,513...6,572,466
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 chr 2:6,657,841...6,662,445
Ensembl chr 2:6,659,054...6,662,288
JBrowse link
G KDM2A lysine demethylase 2A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,238,690...5,357,799
Ensembl chr 2:5,240,312...5,357,829
JBrowse link
G KLC2 kinesin light chain 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,117,236...6,127,048
Ensembl chr 2:6,116,429...6,126,951
JBrowse link
G KMT5B lysine methyltransferase 5B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,710,510...4,768,237
Ensembl chr 2:4,711,023...4,765,979
JBrowse link
G LOC100522421 aldehyde dehydrogenase family 3 member B2-like ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,910,123...4,928,559
Ensembl chr 2:4,920,068...4,928,554
JBrowse link
G LOC100739508 glutathione S-transferase P-like ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,005,498...5,009,247 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 chr 2:5,576,625...5,579,397
Ensembl chr 2:5,576,622...5,580,009
JBrowse link
G LRP5 LDL receptor related protein 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,533,721...4,653,997
Ensembl chr 2:4,533,614...4,653,944
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 chr 2:6,701,455...6,720,191
Ensembl chr 2:6,701,510...6,720,153
JBrowse link
G LTO1 LTO1 maturation factor of ABCE1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:3,607,605...3,615,621
Ensembl chr 2:3,607,600...3,615,616
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 chr 2:6,640,061...6,657,717
Ensembl chr 2:6,640,056...6,657,713
JBrowse link
G MRGPRF MAS related GPR family member F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,123,786...4,132,938
Ensembl chr 2:4,123,829...4,132,938
JBrowse link
G MRPL11 mitochondrial ribosomal protein L11 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,978,470...5,981,449
Ensembl chr 2:5,978,483...5,981,449
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 chr 2:6,462,825...6,470,780
Ensembl chr 2:6,463,413...6,469,112
JBrowse link
G NDUFS8 NADH:ubiquinone oxidoreductase core subunit S8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,863,295...4,867,392
Ensembl chr 2:4,862,589...4,867,393
JBrowse link
G NDUFV1 NADH:ubiquinone oxidoreductase core subunit V1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,958,508...4,964,211
Ensembl chr 2:4,958,522...4,964,216
JBrowse link
G NPAS4 neuronal PAS domain protein 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,990,936...5,995,940
Ensembl chr 2:5,990,327...5,995,929
JBrowse link
G NUDT8 nudix hydrolase 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,948,808...4,952,538 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 chr 2:6,526,679...6,538,992
Ensembl chr 2:6,526,671...6,538,921
JBrowse link
G PACS1 phosphofurin acidic cluster sorting protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,138,345...6,277,309
Ensembl chr 2:6,138,351...6,174,632
JBrowse link
G PC pyruvate carboxylase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,566,608...5,587,797
Ensembl chr 2:5,518,517...5,587,797
JBrowse link
G PCNX3 pecanex 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 2:6,619,213...6,639,933
Ensembl chr 2:6,619,215...6,639,953
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 chr 2:5,950,552...5,959,786
Ensembl chr 2:5,948,849...5,959,734
JBrowse link
G PITPNM1 phosphatidylinositol transfer protein membrane associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,028,889...5,042,302
Ensembl chr 2:5,028,935...5,044,295
JBrowse link
G POLA2 DNA polymerase alpha 2, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,922,384...6,950,289
Ensembl chr 2:6,922,387...6,950,179
JBrowse link
G POLD4 DNA polymerase delta 4, accessory subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,160,906...5,162,753
Ensembl chr 2:5,160,955...5,164,266
JBrowse link
G PPP1CA protein phosphatase 1 catalytic subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,120,202...5,123,168
Ensembl chr 2:5,119,939...5,123,617
JBrowse link
G PPP6R3 protein phosphatase 6 regulatory subunit 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,394,670...4,523,421
Ensembl chr 2:4,394,675...4,523,411
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 chr 2:5,087,203...5,089,359
Ensembl chr 2:5,087,256...5,089,359
JBrowse link
G RAB1B RAB1B, member RAS oncogene family ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,110,438...6,116,443
Ensembl chr 2:6,102,354...6,116,221
JBrowse link
G RAD9A RAD9 checkpoint clamp component A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,123,142...5,129,740
Ensembl chr 2:5,123,134...5,129,703
JBrowse link
G RBM14 RNA binding motif protein 14 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,776,535...5,784,337
Ensembl chr 2:5,776,539...5,784,337
JBrowse link
G RBM14 RNA binding motif protein 14 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,791,445...5,800,784
Ensembl chr 2:5,759,098...5,800,748
JBrowse link
G RBM4B RNA binding motif protein 4B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,745,364...5,758,177 JBrowse link
G RCE1 Ras converting CAAX endopeptidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,587,853...5,595,408
Ensembl chr 2:5,588,546...5,593,142
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 chr 2:6,594,869...6,602,684
Ensembl chr 2:6,593,969...6,603,469
JBrowse link
G RHOD ras homolog family member D ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,392,546...5,404,214
Ensembl chr 2:5,392,547...5,404,339
JBrowse link
G RIN1 Ras and Rab interactor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,053,875...6,061,051 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 chr 2:6,563,093...6,564,281
Ensembl chr 2:6,563,091...6,564,274
JBrowse link
G RPS6KB2 ribosomal protein S6 kinase B2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,089,466...5,095,591
Ensembl chr 2:5,089,471...5,095,575
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 chr 2:6,355,690...6,373,342
Ensembl chr 2:6,354,908...6,373,272
JBrowse link
G SCYL1 SCY1 like pseudokinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,720,047...6,733,477
Ensembl chr 2:6,716,115...6,733,438
JBrowse link
G SF3B2 splicing factor 3b subunit 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,279,039...6,295,550
Ensembl chr 2:6,279,049...6,294,639
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 chr 2:6,606,613...6,618,556
Ensembl chr 2:6,606,626...6,618,566
JBrowse link
G SLC25A45 solute carrier family 25 member 45 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,851,101...6,857,886
Ensembl chr 2:6,851,617...6,857,880
JBrowse link
G SLC29A2 solute carrier family 29 member 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,027,287...6,036,280
Ensembl chr 2:6,027,287...6,036,280
JBrowse link
G SNX32 sorting nexin 32 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 PMID:28600438 NCBI chr 2:6,474,788...6,488,738
Ensembl chr 2:6,475,024...6,488,657
JBrowse link
G SPTBN2 spectrin beta, non-erythrocytic 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,683,414...5,739,418
Ensembl chr 2:5,695,836...5,739,415
JBrowse link
G SSH3 slingshot protein phosphatase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,185,480...5,193,875
Ensembl chr 2:5,185,503...5,193,155
JBrowse link
G SYT12 synaptotagmin 12 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,410,605...5,434,492
Ensembl chr 2:5,410,627...5,433,926
JBrowse link
G TBC1D10C TBC1 domain family member 10C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,112,462...5,118,829
Ensembl chr 2:5,112,467...5,121,061
JBrowse link
G TBX10 T-box transcription factor 10 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,945,381...4,948,117
Ensembl chr 2:4,941,136...4,948,781
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 chr 2:4,844,627...4,860,562
Ensembl chr 2:4,844,637...4,860,498
JBrowse link
G TESMIN testis expressed metallothionein like protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,296,855...4,340,970
Ensembl chr 2:4,297,952...4,340,968
JBrowse link
G TIGD3 tigger transposable element derived 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,865,008...6,867,940
Ensembl chr 2:6,865,374...6,866,789
JBrowse link
G TMEM134 transmembrane protein 134 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,057,244...5,063,266
Ensembl chr 2:5,057,322...5,063,725
JBrowse link
G TMEM151A transmembrane protein 151A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,090,535...6,095,499
Ensembl chr 2:6,090,543...6,095,352
JBrowse link
G TOP6BL TOP6B like initiator of meiotic double strand breaks ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,593,245...5,699,263
Ensembl chr 2:5,593,245...5,697,799
JBrowse link
G TPCN2 two pore segment channel 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,069,267...4,105,065
Ensembl chr 2:4,069,280...4,105,042
JBrowse link
G TSGA10IP testis specific 10 interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:6,374,617...6,391,457
Ensembl chr 2:6,374,617...6,387,718
JBrowse link
G UNC93B1 unc-93 homolog B1, TLR signaling regulator ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:4,898,414...4,909,833
Ensembl chr 2:4,898,409...4,909,856
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 chr 2:6,097,749...6,101,965
Ensembl chr 2:6,095,877...6,102,037
JBrowse link
G ZDHHC24 zinc finger DHHC-type containing 24 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar PMID:28492532 NCBI chr 2:5,874,509...5,883,525 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 chr 2:6,680,832...6,684,564
Ensembl chr 2:6,683,057...6,684,494
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 chr 2:66,242,820...66,248,908
Ensembl chr 2:66,242,999...66,248,784
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 chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182
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 chr 2:66,098,263...66,102,074
Ensembl chr 2:66,098,229...66,102,132
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 chr 2:66,068,722...66,073,537 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 chr 2:66,303,375...66,307,773
Ensembl chr 2:66,303,370...66,307,769
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 chr 2:66,150,071...66,152,857
Ensembl chr 2:66,149,862...66,152,855
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 chr 2:66,105,393...66,114,867
Ensembl chr 2:66,105,429...66,118,191
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 chr 2:66,290,847...66,297,215
Ensembl chr 2:66,291,172...66,297,213
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 chr 2:66,087,421...66,089,578
Ensembl chr 2:66,087,453...66,090,710
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 chr 2:66,131,154...66,138,963
Ensembl chr 2:66,130,625...66,138,868
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 chr 2:66,251,381...66,261,135
Ensembl chr 2:66,251,432...66,260,958
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 chr 2:66,227,562...66,239,671
Ensembl chr 2:66,227,601...66,244,828
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 chr 2:65,909,638...65,912,491
Ensembl chr 2:65,909,651...65,912,445
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 chr 2:66,214,086...66,219,435
Ensembl chr 2:66,214,138...66,217,002
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 chr 2:66,144,767...66,148,500
Ensembl chr 2:66,144,777...66,148,517
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 chr 2:65,950,608...65,956,423
Ensembl chr 2:65,952,519...65,955,011
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 chr 2:66,329,051...66,347,051
Ensembl chr 2:66,329,045...66,348,056
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 chr 2:66,153,109...66,184,303
Ensembl chr 2:66,153,115...66,184,289
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 chr 2:65,920,352...65,938,840
Ensembl chr 2:65,922,126...65,938,759
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 chr 2:65,954,808...66,056,591
Ensembl chr 2:65,954,811...66,056,567
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 chr 2:66,207,829...66,211,474
Ensembl chr 2:66,207,828...66,212,009
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 chr 2:66,090,089...66,096,477
Ensembl chr 2:66,084,668...66,096,329
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 chr 2:66,192,785...66,208,417
Ensembl chr 2:66,193,197...66,207,697
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 chr 2:66,188,077...66,191,434
Ensembl chr 2:66,188,089...66,193,654
JBrowse link
G STX10 syntaxin 10 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:10371528 PMID:10699052 PMID:11854167 PMID:16602100 PMID:19486177 More... NCBI chr 2:65,914,132...65,917,075
Ensembl chr 2:65,914,127...65,917,070
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 chr 2:66,118,439...66,133,454
Ensembl chr 2:66,128,492...66,131,963
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 chr 2:66,267,776...66,288,763
Ensembl chr 2:66,271,496...66,288,264
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 chr 2:66,262,377...66,265,427
Ensembl chr 2:66,262,424...66,265,426
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 chr 2:65,940,122...65,949,324
Ensembl chr 2:65,940,125...65,949,324
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 chr 2:66,307,652...66,312,839
Ensembl chr 2:66,307,653...66,312,844
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 chr 2:66,312,920...66,328,000
Ensembl chr 2:66,325,992...66,328,004
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 chr17:40,603,977...40,633,613
Ensembl chr17:40,624,844...40,625,107
JBrowse link
G CTNNBL1 catenin beta like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr17:40,809,932...40,948,844
Ensembl chr17:40,774,720...40,949,022
JBrowse link
G GHRH growth hormone releasing hormone ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr17:40,386,725...40,398,312
Ensembl chr17:40,387,344...40,397,857
JBrowse link
G MANBAL mannosidase beta like ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr17:40,420,745...40,449,657 JBrowse link
G MROH8 maestro heat like repeat family member 8 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr17:40,289,934...40,303,899 JBrowse link
G NNAT neuronatin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr17:40,625,990...40,629,523 JBrowse link
G RBL1 RB transcriptional corepressor like 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr17:40,201,214...40,279,318
Ensembl chr17:40,194,950...40,279,156
JBrowse link
G RPN2 ribophorin II ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:28492532 NCBI chr17:40,322,364...40,378,866
Ensembl chr17:40,322,368...40,378,858
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 chr17:40,117,348...40,171,935
Ensembl chr17:40,107,462...40,171,878
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 chr17:40,470,970...40,524,862
Ensembl chr17:40,471,009...40,524,860
JBrowse link
G TLDC2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr17:40,105,500...40,118,743
Ensembl chr17:40,109,210...40,120,399
JBrowse link
Aicardi-Goutieres Syndrome 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADAR adenosine deaminase RNA specific ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 OMIM
ClinVar
PMID:9536098 PMID:9889202 PMID:15146470 PMID:15489923 PMID:15955093 More... NCBI chr 4:95,154,230...95,197,308
Ensembl chr 4:95,154,357...95,197,304
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 chr15:68,930,998...68,985,145
Ensembl chr15:68,928,254...68,985,083
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 chr16:65,587,502...65,600,605
Ensembl chr16:65,590,120...65,600,566
JBrowse link
Aicardi-Goutieres Syndrome 9 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C5H12orf57 chromosome 5 C12orf57 homolog ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 ClinVar PMID:7667090 PMID:16547514 PMID:25741868 PMID:33230297 NCBI chr 5:63,779,510...63,781,307
Ensembl chr 5:63,779,513...63,781,517
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 chr17:11,725,880...11,739,949
Ensembl chr17:11,725,880...11,739,747
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 chr17:11,687,646...11,714,357
Ensembl chr17:11,687,557...11,722,183
JBrowse link
G DUOX2 dual oxidase 2 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar NCBI chr 1:126,620,468...126,641,406
Ensembl chr 1:126,620,510...126,641,406
JBrowse link
G FNTA farnesyltransferase, CAAX box, subunit alpha ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr17:11,928,327...11,953,139
Ensembl chr17:11,928,358...11,951,684
JBrowse link
G HOOK3 hook microtubule tethering protein 3 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr17:11,817,963...11,919,152
Ensembl chr17:11,818,031...11,923,196
JBrowse link
G PDGFB platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:25741868 Ensembl chr 5:8,986,462...9,007,435 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 chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647
JBrowse link
G RNF170 ring finger protein 170 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr17:11,777,942...11,817,920
Ensembl chr17:11,780,129...11,816,049
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 chr17:11,435,435...11,549,623
Ensembl chr17:11,435,442...11,486,581
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 chr17:11,549,907...11,566,898
Ensembl chr17:11,549,937...11,566,898
JBrowse link
G THAP1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr17:11,765,383...11,773,321
Ensembl chr17:11,765,149...11,772,620
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 chr 3:128,903,395...128,917,873
Ensembl chr 3:128,903,616...128,917,871
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 chr 2:151,155,753...151,192,818
Ensembl chr 2:151,155,756...151,192,647
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... Ensembl chr 5:8,986,462...9,007,435 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 chr 9:122,237,954...122,461,669
Ensembl chr 9:122,237,957...122,458,171
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 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 chr10:32,436,349...32,443,971
Ensembl chr10:32,436,656...32,443,968
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 chr13:189,199,789...189,275,843
Ensembl chr13:189,165,975...189,275,839
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 chr 3:38,763,444...38,812,862
Ensembl chr 3:38,763,447...38,781,988
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 chr15:68,930,998...68,985,145
Ensembl chr15:68,928,254...68,985,083
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 chr 6:63,579,291...63,593,429
Ensembl chr 6:63,579,304...63,593,435
JBrowse link
G ACTRT2 actin related protein T2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,664,484...64,665,774
Ensembl chr 6:64,664,641...64,665,774
JBrowse link
G AGRN agrin ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,366,017...63,398,311
Ensembl chr 6:63,365,983...63,398,309
JBrowse link
G ANKRD65 ankyrin repeat domain 65 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,678,757...63,686,409 JBrowse link
G ARHGEF16 Rho guanine nucleotide exchange factor 16 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,026,490...65,048,545
Ensembl chr 6:65,027,442...65,048,542
JBrowse link
G AURKAIP1 aurora kinase A interacting protein 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,656,120...63,657,568
Ensembl chr 6:63,656,119...63,657,472
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 chr 6:63,540,066...63,541,962
Ensembl chr 6:63,540,141...63,541,112
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 chr 6:63,548,862...63,555,991
Ensembl chr 6:63,548,864...63,553,332
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 chr 6:63,970,359...63,971,973 JBrowse link
G CCDC27 coiled-coil domain containing 27 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,242,725...65,254,879
Ensembl chr 6:65,242,602...65,255,727
JBrowse link
G CCNL2 cyclin L2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,659,053...63,668,077
Ensembl chr 6:63,659,054...63,668,047
JBrowse link
G CDK11 cyclin dependent kinase 11 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,804,914...63,819,960 JBrowse link
G CEP104 centrosomal protein 104 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,274,092...65,310,735
Ensembl chr 6:65,274,488...65,310,669
JBrowse link
G CFAP74 cilia and flagella associated protein 74 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,976,011...64,038,899
Ensembl chr 6:63,976,346...64,024,562
JBrowse link
G CPTP ceramide-1-phosphate transfer protein ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,607,991...63,612,325 JBrowse link
G DVL1 dishevelled segment polarity protein 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,617,787...63,628,965
Ensembl chr 6:63,617,789...63,628,913
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 chr 6:64,160,760...64,169,663 JBrowse link
G FNDC10 fibronectin type III domain containing 10 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,762,059...63,765,483
Ensembl chr 6:63,764,815...63,765,483
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 chr 6:64,049,665...64,059,644
Ensembl chr 6:64,049,675...64,059,640
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 chr 6:63,867,155...63,957,514
Ensembl chr 6:63,867,158...63,952,505
JBrowse link
G HES4 hes family bHLH transcription factor 4 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,351,593...63,356,690
Ensembl chr 6:63,351,602...63,356,466
JBrowse link
G HES5 hes family bHLH transcription factor 5 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,409,110...64,410,541
Ensembl chr 6:64,408,956...64,410,881
JBrowse link
G INTS11 integrator complex subunit 11 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,596,809...63,607,915
Ensembl chr 6:63,596,803...63,607,921
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 chr 6:63,363,201...63,364,211
Ensembl chr 6:63,363,173...63,364,208
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 chr 6:63,320,898...63,328,093
Ensembl chr 6:63,322,184...63,328,259
JBrowse link
G LOC100525876 ATPase family AAA domain-containing protein 3 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,706,155...63,721,574
Ensembl chr 6:63,701,460...63,721,573
JBrowse link
G LOC100624218 MORN repeat-containing protein 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,266,184...64,300,980
Ensembl chr 6:64,253,268...64,300,897
JBrowse link
G LRRC47 leucine rich repeat containing 47 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,261,990...65,271,745
Ensembl chr 6:65,260,793...65,271,729
JBrowse link
G MEGF6 multiple EGF like domains 6 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:65,055,533...65,141,449
Ensembl chr 6:65,053,389...65,141,380
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 chr 6:63,787,200...63,800,425
Ensembl chr 6:63,787,201...63,800,423
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 chr 6:64,436,778...64,470,888
Ensembl chr 6:64,436,642...64,472,759
JBrowse link
G MMP23 matrix metallopeptidase 23 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,801,668...63,804,275
Ensembl chr 6:63,801,965...63,805,046
JBrowse link
G MRPL20 mitochondrial ribosomal protein L20 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,670,750...63,675,834
Ensembl chr 6:63,670,755...63,675,839
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 chr 6:63,630,936...63,635,623
Ensembl chr 6:63,630,938...63,635,456
JBrowse link
G NADK NAD kinase ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,846,650...63,864,137
Ensembl chr 6:63,846,655...63,863,946
JBrowse link
G NOC2L NOC2 like nucleolar associated transcriptional repressor ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,307,703...63,320,799
Ensembl chr 6:63,307,695...63,335,201
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 chr 6:64,393,092...64,407,443
Ensembl chr 6:64,393,102...64,407,448
JBrowse link
G PEX10 peroxisomal biogenesis factor 10 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,311,743...64,317,693 JBrowse link
G PLCH2 phospholipase C eta 2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,325,918...64,392,070
Ensembl chr 6:64,325,952...64,392,068
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 chr 6:63,328,054...63,336,140
Ensembl chr 6:63,328,605...63,336,138
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 chr 6:64,704,181...65,012,580
Ensembl chr 6:64,704,920...65,012,570
JBrowse link
G PRKCZ protein kinase C zeta ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,073,343...64,159,187
Ensembl chr 6:64,068,577...64,163,472
JBrowse link
G PRXL2B peroxiredoxin like 2B ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,432,187...64,435,328
Ensembl chr 6:64,432,148...64,435,320
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 chr 6:63,593,539...63,596,921
Ensembl chr 6:63,593,959...63,599,019
JBrowse link
G RER1 retention in endoplasmic reticulum sorting receptor 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,301,139...64,311,526
Ensembl chr 6:64,301,199...64,311,783
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 chr 6:63,413,080...63,445,277
Ensembl chr 6:63,413,086...63,414,357
JBrowse link
G SAMD11 sterile alpha motif domain containing 11 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,287,449...63,308,231
Ensembl chr 6:63,287,713...63,308,482
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 chr 6:63,568,171...63,578,623 JBrowse link
G SDF4 stromal cell derived factor 4 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,529,853...63,539,979
Ensembl chr 6:63,529,853...63,544,944
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 chr 6:64,188,265...64,242,596
Ensembl chr 6:64,188,236...64,242,560
JBrowse link
G SLC35E2 solute carrier family 35 member E2 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,820,804...63,842,400
Ensembl chr 6:63,820,812...63,835,561
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 chr 6:65,255,792...65,259,129
Ensembl chr 6:65,255,823...65,259,126
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 chr 6:63,728,318...63,757,460
Ensembl chr 6:63,728,325...63,755,163
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 chr 6:63,613,536...63,617,831
Ensembl chr 6:63,607,990...63,617,809
JBrowse link
G TMEM240 transmembrane protein 240 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,721,655...63,727,457
Ensembl chr 6:63,721,656...63,727,526
JBrowse link
G TMEM52 transmembrane protein 52 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,969,438...63,974,312
Ensembl chr 6:63,969,440...63,974,286
JBrowse link
G TMEM88B transmembrane protein 88B ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,686,542...63,689,298
Ensembl chr 6:63,686,546...63,688,456
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 chr 6:63,516,037...63,519,323
Ensembl chr 6:63,516,045...63,518,405
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 chr 6:63,523,850...63,526,672
Ensembl chr 6:63,523,804...63,526,666
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 chr 6:65,169,770...65,228,997
Ensembl chr 6:65,182,456...65,228,990
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 chr 6:65,150,897...65,154,311
Ensembl chr 6:65,150,903...65,154,429
JBrowse link
G TTC34 tetratricopeptide repeat domain 34 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:64,478,117...64,499,034
Ensembl chr 6:64,478,408...64,499,986
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 chr 6:63,494,759...63,513,884
Ensembl chr 6:63,497,597...63,511,918
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 chr 6:63,556,134...63,568,080
Ensembl chr 6:63,555,488...63,568,017
JBrowse link
G VWA1 von Willebrand factor A domain containing 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:19492091 PMID:21031596 PMID:26477546 More... NCBI chr 6:63,695,195...63,700,296
Ensembl chr 6:63,694,979...63,700,287
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 chr 6:65,155,201...65,167,091
Ensembl chr 6:65,155,209...65,167,079
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15428
    Nutritional and Metabolic Diseases 7391
      disease of metabolism 7391
        mineral metabolism disease 934
          calcium metabolism disease 608
            calcinosis 537
              basal ganglia calcification 313
                Aicardi-Goutieres syndrome + 231
                Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 0
                Idiopathic Basal Ganglia Calcification 1 11
                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 66
Path 2
Term Annotations click to browse term
  disease 15428
    Nutritional and Metabolic Diseases 7391
      disease of metabolism 7391
        acquired metabolic disease 2270
          mineral metabolism disease 934
            calcium metabolism disease 608
              calcinosis 537
                basal ganglia calcification 313
                  Aicardi-Goutieres syndrome + 231
                  Craniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism 0
                  Idiopathic Basal Ganglia Calcification 1 11
                  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 66
paths to the root