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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 disease
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Accession:DOID:679 term browser browse the term
Definition:Diseases of the BASAL GANGLIA including the PUTAMEN; GLOBUS PALLIDUS; claustrum; AMYGDALA; and CAUDATE NUCLEUS. DYSKINESIAS (most notably involuntary movements and alterations of the rate of movement) represent the primary clinical manifestations of these disorders. Common etiologies include CEREBROVASCULAR DISORDERS; NEURODEGENERATIVE DISEASES; and CRANIOCEREBRAL TRAUMA.
Synonyms:exact_synonym: Basal Ganglia Disorder;   Basal Ganglia Disorders;   Extrapyramidal Disorder;   Extrapyramidal Disorders;   Lenticulostriate Disorder;   Lenticulostriate Disorders;   basal ganglia diseases
 primary_id: MESH:D001480;   RDO:0001075
For additional species annotation, visit the Alliance of Genome Resources.



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basal ganglia disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16000684 NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759
JBrowse link
G Drd2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:11198054 PMID:12211096 PMID:18480698 PMID:19225277 PMID:19506579 NCBI chr 8:49,708,903...49,772,888
Ensembl chr 8:49,708,927...49,772,875
JBrowse link
G Drd3 dopamine receptor D3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19506579 NCBI chr11:56,879,689...56,931,901
Ensembl chr11:56,879,689...56,940,596
JBrowse link
G Ftl1 ferritin light chain 1 ISO DNA:insertion:exon:460_461insA(human) RGD PMID:11438811 RGD:5509839 NCBI chr 1:95,936,390...95,938,234
Ensembl chr 1:95,936,387...95,939,725
JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:18480698 NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928
JBrowse link
G Micu1 mitochondrial calcium uptake 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24336167 NCBI chr20:27,668,681...27,816,322
Ensembl chr20:27,668,747...27,814,964
JBrowse link
G Pde8b phosphodiesterase 8B ISO CTD Direct Evidence: marker/mechanism CTD PMID:20085714 NCBI chr 2:26,275,117...26,479,725
Ensembl chr 2:26,276,635...26,509,209
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
JBrowse link
G Prl prolactin ISO CTD Direct Evidence: marker/mechanism CTD PMID:7214106 NCBI chr17:37,859,999...37,870,062
Ensembl chr17:37,860,007...37,870,062
JBrowse link
G Slc19a3 solute carrier family 19 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19387023 NCBI chr 9:84,275,722...84,299,368
Ensembl chr 9:84,277,024...84,299,337
JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr16:69,460,850...69,551,418
Ensembl chr16:69,460,462...69,521,711
JBrowse link
G Xpr1 xenotropic and polytropic retrovirus receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:25938945 NCBI chr13:67,441,205...67,585,950
Ensembl chr13:67,446,380...67,585,946
JBrowse link
Aicardi-Goutieres syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
DNA:mutations:exons:
CTD
ClinVar
RGD
PMID:9889202 PMID:19060901 PMID:20301648 PMID:22129056 PMID:23001123 More... RGD:11069491 NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
JBrowse link
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME ClinVar PMID:16845398 PMID:23602593 PMID:24033266 PMID:24183309 PMID:25582466 More... NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477
JBrowse link
G Ifih1 interferon induced with helicase C domain 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24686847 NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
JBrowse link
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458
JBrowse link
G Rnaseh2a ribonuclease H2, subunit A ISS
ISO
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
MouseDO
ClinVar
PMID:17846997 PMID:20131292 PMID:21454563 PMID:23592335 PMID:24033266 More... NCBI chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041
JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
CTD
ClinVar
PMID:16845400 PMID:17846997 PMID:18069026 PMID:18414213 PMID:18754903 More... NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISS
ISO
OMIM:225750 | OMIM:610181 | OMIM:610329 | OMIM:610333 | OMIM:612952 | OMIM:615010 | OMIM:615846
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
MouseDO
ClinVar
PMID:9536098 PMID:17576681 PMID:28492532 NCBI chr 1:202,894,504...202,895,675
Ensembl chr 1:202,894,643...202,897,516
JBrowse link
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome
CTD
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20358604 More... NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi Goutieres syndrome ClinVar PMID:28492532 NCBI chr 3:145,742,381...145,758,847
Ensembl chr 3:145,743,619...145,758,741
JBrowse link
G Trex1 three prime repair exonuclease 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Aicardi Goutieres syndrome | ClinVar Annotator: match by term: PSEUDOTOXOPLASMOSIS SYNDROME
CTD
ClinVar
PMID:16845398 PMID:23602593 PMID:24033266 PMID:24183309 PMID:25582466 More... NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796
JBrowse link
G Usp18 ubiquitin specific peptidase 18 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 4:154,471,634...154,499,154
Ensembl chr 4:154,471,592...154,499,144
JBrowse link
Aicardi-Goutieres Syndrome 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Amigo3 adhesion molecule with Ig like domain 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,741,899...108,743,425
Ensembl chr 8:108,693,060...108,744,555
JBrowse link
G Amt aminomethyltransferase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,981,620...108,988,127
Ensembl chr 8:108,976,472...108,988,126
JBrowse link
G Apeh acylaminoacyl-peptide hydrolase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,773,791...108,782,903
Ensembl chr 8:108,773,794...108,782,933
JBrowse link
G Arih2 ariadne RBR E3 ubiquitin protein ligase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,296,738...109,355,909
Ensembl chr 8:109,296,738...109,355,852
JBrowse link
G Arih2os ARIH2 opposite strand lncRNA ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532
G Atrip ATR interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:1821204 PMID:3174024 PMID:16845398 PMID:16960810 PMID:17293595 More... NCBI chr 8:109,708,440...109,722,511
Ensembl chr 8:109,708,440...109,722,477
JBrowse link
G Bsn bassoon (presynaptic cytomatrix protein) ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,784,849...108,875,819
Ensembl chr 8:108,788,542...108,875,819
JBrowse link
G Camkv CaM kinase-like vesicle-associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,626,821...108,641,169
Ensembl chr 8:108,626,821...108,641,169
JBrowse link
G Ccdc71 coiled-coil domain containing 71 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,146,650...109,161,749
Ensembl chr 8:109,146,359...109,165,216
JBrowse link
G Cdhr4 cadherin-related family member 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,682,594...108,690,358
Ensembl chr 8:108,682,613...108,690,367
JBrowse link
G Celsr3 cadherin, EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,530,597...109,558,360
Ensembl chr 8:109,530,641...109,558,354
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 chr 8:109,604,877...109,637,252
Ensembl chr 8:109,604,861...109,637,252
JBrowse link
G Dag1 dystroglycan 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,890,926...108,955,611
Ensembl chr 8:108,890,929...108,952,325
JBrowse link
G Dalrd3 DALR anticodon binding domain containing 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,264,100...109,268,560
Ensembl chr 8:109,265,676...109,268,568
JBrowse link
G Gmppb GDP-mannose pyrophosphorylase B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,737,429...108,767,286
Ensembl chr 8:108,693,060...108,767,286
JBrowse link
G Gnai2 G protein subunit alpha i2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,288,401...108,309,009
Ensembl chr 8:108,288,401...108,308,979
JBrowse link
G Gnat1 G protein subunit alpha transducin 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,350,935...108,355,671
Ensembl chr 8:108,350,935...108,355,671
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Hyal1 hyaluronidase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,250,654...108,254,526
Ensembl chr 8:108,250,667...108,260,210
JBrowse link
G Hyal3 hyaluronidase 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,254,385...108,260,020
Ensembl chr 8:108,250,667...108,260,647
JBrowse link
G Ifrd2 interferon-related developmental regulator 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,260,969...108,266,191
Ensembl chr 8:108,260,969...108,266,194
JBrowse link
G Iho1 interactor of HORMAD1 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,091,134...109,126,386
Ensembl chr 8:109,092,758...109,125,434
JBrowse link
G Impdh2 inosine monophosphate dehydrogenase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,256,705...109,261,365
Ensembl chr 8:109,256,728...109,261,359
JBrowse link
G Inka1 inka box actin regulator 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,674,263...108,675,953
Ensembl chr 8:108,674,263...108,675,953
JBrowse link
G Ip6k1 inositol hexakisphosphate kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,693,068...108,737,278 JBrowse link
G Ip6k2 inositol hexakisphosphate kinase 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,483,843...109,510,172
Ensembl chr 8:109,484,310...109,510,166
JBrowse link
G Klhdc8b kelch domain containing 8B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,141,594...109,146,584
Ensembl chr 8:109,141,594...109,146,918
JBrowse link
G Lamb2 laminin subunit beta 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,178,367...109,190,552
Ensembl chr 8:109,178,409...109,190,549
JBrowse link
G LOC498675 hypothetical LOC498675 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,080,032...109,084,650
Ensembl chr 8:109,036,030...109,097,895
JBrowse link
G LOC680045 hypothetical protein LOC680045 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,131,138...109,140,784
Ensembl chr 8:109,124,762...109,140,791
JBrowse link
G Lsmem2 leucine-rich single-pass membrane protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,265,855...108,270,656
Ensembl chr 8:108,266,345...108,279,115
JBrowse link
G Mir191 microRNA 191 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,264,098...109,264,188 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 chr 8:108,574,272...108,593,163
Ensembl chr 8:108,574,388...108,593,156
JBrowse link
G Mst1 macrophage stimulating 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,767,886...108,773,425
Ensembl chr 8:108,768,839...108,773,416
JBrowse link
G Mst1r macrophage stimulating 1 receptor ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,596,100...108,611,389
Ensembl chr 8:108,597,299...108,612,455
JBrowse link
G Naa80 N(alpha)-acetyltransferase 80, NatH catalytic subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,254,314...108,257,564
Ensembl chr 8:108,253,302...108,257,563
JBrowse link
G Nckipsd NCK interacting protein with SH3 domain ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,511,484...109,522,625
Ensembl chr 8:109,511,658...109,522,246
JBrowse link
G Ndufaf3 NADH:ubiquinone oxidoreductase complex assembly factor 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,261,362...109,263,194
Ensembl chr 8:109,261,363...109,263,194
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 chr 8:108,976,393...108,981,620
Ensembl chr 8:108,976,464...108,981,067
JBrowse link
G P4htm prolyl 4-hydroxylase, transmembrane ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,274,629...109,292,802
Ensembl chr 8:109,274,626...109,292,473
JBrowse link
G Pfkfb4 6-phosphofructo-2-kinase/fructose-2,6-biphosphatase 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,643,558...109,687,006
Ensembl chr 8:109,643,937...109,685,634
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 chr 8:109,393,189...109,458,832
Ensembl chr 8:109,395,833...109,455,628
JBrowse link
G Qars1 glutaminyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,207,705...109,215,738
Ensembl chr 8:109,207,705...109,215,739
JBrowse link
G Qrich1 glutamine-rich 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,216,900...109,256,472
Ensembl chr 8:109,217,376...109,261,359
JBrowse link
G Rbm5 RNA binding motif protein 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,420,220...108,449,481
Ensembl chr 8:108,420,222...108,449,430
JBrowse link
G Rbm6 RNA binding motif protein 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,452,687...108,552,783
Ensembl chr 8:108,452,687...108,552,771
JBrowse link
G Rhoa ras homolog family member A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,991,926...109,025,746
Ensembl chr 8:108,991,954...109,025,746
JBrowse link
G Rnf123 ring finger protein 123 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,740,176...108,768,177
Ensembl chr 8:108,739,620...108,767,675
JBrowse link
G Sema3b semaphorin 3B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,271,663...108,280,326
Ensembl chr 8:108,271,666...108,282,919
JBrowse link
G Sema3f semaphorin 3F ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,357,629...108,387,083
Ensembl chr 8:108,357,629...108,387,083
JBrowse link
G Shisa5 shisa family member 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,691,476...109,706,409
Ensembl chr 8:109,691,522...109,706,408
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 chr 8:109,365,056...109,386,512
Ensembl chr 8:109,365,002...109,386,512
JBrowse link
G Slc26a6 solute carrier family 26 member 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,558,968...109,569,778
Ensembl chr 8:109,559,642...109,569,778
JBrowse link
G Slc38a3 solute carrier family 38, member 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,323,889...108,339,959
Ensembl chr 8:108,323,894...108,339,988
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 chr 8:108,988,588...108,992,324
Ensembl chr 8:108,988,590...108,991,564
JBrowse link
G Tmem89 transmembrane protein 89 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,571,377...109,572,271
Ensembl chr 8:109,571,377...109,572,271
JBrowse link
G Traip TRAF-interacting protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,641,860...108,661,640
Ensembl chr 8:108,641,852...108,661,638
JBrowse link
G Trex1 three prime repair exonuclease 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 OMIM
ClinVar
PMID:1821204 PMID:3174024 PMID:16845398 PMID:16960810 PMID:17293595 More... NCBI chr 8:109,706,613...109,707,913
Ensembl chr 8:109,706,613...109,708,796
JBrowse link
G Uba7 ubiquitin-like modifier activating enzyme 7 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:108,665,289...108,674,099
Ensembl chr 8:108,665,292...108,674,099
JBrowse link
G Ucn2 urocortin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,637,624...109,639,173
Ensembl chr 8:109,638,285...109,639,172
JBrowse link
G Uqcrc1 ubiquinol-cytochrome c reductase core protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,589,735...109,601,481
Ensembl chr 8:109,589,706...109,601,480
JBrowse link
G Usp19 ubiquitin specific peptidase 19 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,190,727...109,201,761
Ensembl chr 8:109,190,724...109,201,741
JBrowse link
G Usp4 ubiquitin specific peptidase 4 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,035,402...109,080,427
Ensembl chr 8:109,036,099...109,080,427
JBrowse link
G Wdr6 WD repeat domain 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 1 ClinVar PMID:16845398 PMID:28492532 NCBI chr 8:109,268,079...109,274,504
Ensembl chr 8:109,268,079...109,274,499
JBrowse link
Aicardi-Goutieres Syndrome 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alg11 ALG11, alpha-1,2-mannosyltransferase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 ClinVar PMID:28492532 NCBI chr16:69,940,540...69,951,617
Ensembl chr16:69,944,349...69,951,601
JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 ClinVar PMID:28492532 NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636
JBrowse link
G Ccdc70 coiled-coil domain containing 70 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 ClinVar PMID:28492532 NCBI chr16:70,037,309...70,042,401
Ensembl chr16:70,037,309...70,042,339
JBrowse link
G Fam124a family with sequence similarity 124 member A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 ClinVar PMID:28492532 NCBI chr15:36,799,836...36,855,062
Ensembl chr15:36,799,877...36,853,683
JBrowse link
G Ints6 integrator complex subunit 6 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 ClinVar PMID:28492532 NCBI chr15:36,908,966...37,048,043
Ensembl chr15:36,933,724...37,021,527
JBrowse link
G Rnaseh2b ribonuclease H2, subunit B ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chr15:36,541,200...36,592,016
Ensembl chr15:36,541,218...36,584,118
JBrowse link
G Serpine3 serpin family E member 3 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 ClinVar PMID:28492532 NCBI chr15:36,908,816...36,931,825
Ensembl chr15:36,907,131...36,933,150
JBrowse link
G Wdfy2 WD repeat and FYVE domain containing 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 2 ClinVar PMID:28492532 NCBI chr15:37,083,842...37,209,559
Ensembl chr15:37,042,987...37,209,304
JBrowse link
Aicardi-Goutieres Syndrome 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kat5 lysine acetyltransferase 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 ClinVar NCBI chr 1:202,895,751...202,903,178
Ensembl chr 1:202,895,751...202,903,458
JBrowse link
G Rnaseh2c ribonuclease H2, subunit C ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 3 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:16845400 PMID:17576681 PMID:17846997 More... NCBI chr 1:202,894,504...202,895,675
Ensembl chr 1:202,894,643...202,897,516
JBrowse link
Aicardi-Goutieres Syndrome 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Best2 bestrophin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 More... NCBI chr19:23,141,602...23,148,351
Ensembl chr19:23,141,602...23,148,339
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 More... NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225
JBrowse link
G Calr calreticulin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 More... NCBI chr19:23,308,525...23,313,420
Ensembl chr19:23,308,351...23,313,414
JBrowse link
G Dand5 DAN domain BMP antagonist family member 5 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 More... NCBI chr19:23,330,917...23,340,486
Ensembl chr19:23,334,164...23,339,589
JBrowse link
G Dhps deoxyhypusine synthase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 More... NCBI chr19:23,082,454...23,086,544
Ensembl chr19:23,082,448...23,086,881
JBrowse link
G Dnase2 deoxyribonuclease 2, lysosomal ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 More... NCBI chr19:23,244,661...23,247,329
Ensembl chr19:23,244,664...23,247,376
JBrowse link
G Farsa phenylalanyl-tRNA synthetase subunit alpha ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 More... NCBI chr19:23,291,409...23,300,985
Ensembl chr19:23,268,869...23,300,980
JBrowse link
G Fbxw9 F-box and WD repeat domain containing 9 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 More... NCBI chr19:23,090,534...23,097,439
Ensembl chr19:23,090,534...23,097,439
JBrowse link
G Gadd45gip1 GADD45G interacting protein 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 More... NCBI chr19:23,320,662...23,323,211
Ensembl chr19:23,320,159...23,323,236
JBrowse link
G Gcdh glutaryl-CoA dehydrogenase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 More... NCBI chr19:23,263,215...23,269,689
Ensembl chr19:23,263,264...23,269,681
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:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 More... NCBI chr19:23,130,109...23,138,196
Ensembl chr19:23,130,109...23,138,193
JBrowse link
G Hook2 hook microtubule-tethering protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 More... NCBI chr19:23,151,869...23,170,139
Ensembl chr19:23,151,870...23,164,181
JBrowse link
G Ier2 immediate early response 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 More... NCBI chr19:23,494,551...23,496,075
Ensembl chr19:23,494,184...23,499,211
JBrowse link
G Junb JunB proto-oncogene, AP-1 transcription factor subunit ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 More... NCBI chr19:23,176,265...23,178,049
Ensembl chr19:23,176,294...23,178,035
JBrowse link
G Klf1 Kruppel like factor 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 More... NCBI chr19:23,250,627...23,253,802
Ensembl chr19:23,250,631...23,253,758
JBrowse link
G Lyl1 LYL1, basic helix-loop-helix family member ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 More... NCBI chr19:23,452,140...23,455,007
Ensembl chr19:23,452,140...23,455,007
JBrowse link
G Man2b1 mannosidase, alpha, class 2B, member 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 More... NCBI chr19:23,055,092...23,074,398
Ensembl chr19:23,055,097...23,074,389
JBrowse link
G MAST1 microtubule associated serine/threonine kinase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 More... NCBI chr19:23,216,418...23,244,224
Ensembl chr19:23,207,991...23,244,235
JBrowse link
G Nacc1 nucleus accumbens associated 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 More... NCBI chr19:23,468,688...23,486,528
Ensembl chr19:23,468,419...23,486,528
JBrowse link
G Nfix nuclear factor I X ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 More... NCBI chr19:23,355,388...23,450,360
Ensembl chr19:23,355,498...23,448,265
JBrowse link
G Prdx2 peroxiredoxin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 More... NCBI chr19:23,180,927...23,186,217
Ensembl chr19:23,180,930...23,186,194
JBrowse link
G Rad23a RAD23 homolog A, nucleotide excision repair protein ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 More... NCBI chr19:23,313,563...23,320,702
Ensembl chr19:23,314,797...23,320,695
JBrowse link
G Rnaseh2a ribonuclease H2, subunit A ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 OMIM
ClinVar
PMID:9536098 PMID:15870678 PMID:16199547 PMID:16845400 PMID:17576681 More... NCBI chr19:23,186,325...23,196,045
Ensembl chr19:23,186,383...23,196,041
JBrowse link
G Rtbdn retbindin ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 More... NCBI chr19:23,197,506...23,205,544
Ensembl chr19:23,197,506...23,204,438
JBrowse link
G Syce2 synaptonemal complex central element protein 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 More... NCBI chr19:23,266,236...23,291,265
Ensembl chr19:23,268,869...23,300,980
JBrowse link
G Tnpo2 transportin 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 More... NCBI chr19:23,099,398...23,119,696
Ensembl chr19:23,099,401...23,119,596
JBrowse link
G Trir telomerase RNA component interacting RNase ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 More... NCBI chr19:23,125,083...23,128,502
Ensembl chr19:23,125,083...23,128,510
JBrowse link
G Trmt1 tRNA methyltransferase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 More... NCBI chr19:23,456,756...23,471,581
Ensembl chr19:23,456,756...23,466,956
JBrowse link
G Wdr83 WD repeat domain 83 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 More... NCBI chr19:23,076,948...23,082,569
Ensembl chr19:23,077,010...23,082,563
JBrowse link
G Wdr83os WD repeat domain 83 opposite strand ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 4 ClinVar PMID:20097664 PMID:21183743 PMID:21454563 PMID:23831250 PMID:25274781 More... NCBI chr19:23,075,372...23,076,934
Ensembl chr19:23,075,376...23,076,894
JBrowse link
Aicardi-Goutieres Syndrome 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Samhd1 SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:16199547 PMID:17576681 PMID:19525956 PMID:20131292 More... NCBI chr 3:145,761,549...145,794,420
Ensembl chr 3:145,761,558...145,794,386
JBrowse link
G Tldc2 TBC/LysM-associated domain containing 2 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 5 ClinVar PMID:25741868 PMID:28492532 NCBI chr 3:145,742,381...145,758,847
Ensembl chr 3:145,743,619...145,758,741
JBrowse link
Aicardi-Goutieres Syndrome 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adar adenosine deaminase, RNA-specific ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 6 OMIM
ClinVar
PMID:9536098 PMID:9889202 PMID:15146470 PMID:15955093 PMID:16817193 More... NCBI chr 2:175,138,391...175,178,280
Ensembl chr 2:175,138,403...175,178,282
JBrowse link
Aicardi-Goutieres Syndrome 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ifih1 interferon induced with helicase C domain 1 ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 7 OMIM
ClinVar
PMID:21070929 PMID:24686847 PMID:24995871 PMID:25243380 PMID:25620204 More... NCBI chr 3:47,228,980...47,275,403
Ensembl chr 3:47,227,364...47,275,456
JBrowse link
Aicardi-Goutieres Syndrome 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lsm11 LSM11, U7 small nuclear RNA associated ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 8 OMIM
ClinVar
PMID:33230297 NCBI chr10:30,367,841...30,385,956
Ensembl chr10:30,370,727...30,385,944
JBrowse link
Aicardi-Goutieres Syndrome 9 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Grcc10 gene rich cluster, C10 gene ISO ClinVar Annotator: match by term: Aicardi-Goutieres syndrome 9 ClinVar PMID:7667090 PMID:16547514 PMID:33230297 NCBI chr 4:157,551,276...157,552,924 JBrowse link
amyotrophic lateral sclerosis type 14 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Arid3c AT-rich interaction domain 3C ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,890,042...56,895,888
Ensembl chr 5:56,890,042...56,895,888
JBrowse link
G Ccl19 C-C motif chemokine ligand 19 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,963,364...56,965,308
Ensembl chr 5:56,963,364...56,965,308
JBrowse link
G Ccl21 C-C motif chemokine ligand 21 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,980,557...56,981,661
Ensembl chr 5:56,980,558...56,981,686
JBrowse link
G Ccl27 C-C motif chemokine ligand 27 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,941,402...56,948,511
Ensembl chr 5:56,941,402...56,948,506
JBrowse link
G Cntfr ciliary neurotrophic factor receptor ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,823,448...56,861,075
Ensembl chr 5:56,823,965...56,841,392
JBrowse link
G Dctn3 dynactin subunit 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,881,085...56,889,041
Ensembl chr 5:56,881,085...56,889,102
JBrowse link
G Dnai1 dynein, axonemal, intermediate chain 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,730,179...56,800,926
Ensembl chr 5:56,730,179...56,800,925
JBrowse link
G Dnajb5 DnaJ heat shock protein family (Hsp40) member B5 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,176,840...57,185,492
Ensembl chr 5:57,176,845...57,185,490
JBrowse link
G Enho energy homeostasis associated ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,800,980...56,802,777
Ensembl chr 5:56,800,980...56,802,777
JBrowse link
G Fam205a family with sequence similarity 205, member A ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,065,739...57,071,880
Ensembl chr 5:57,065,747...57,071,738
JBrowse link
G Galt galactose-1-phosphate uridylyltransferase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,927,039...56,930,284
Ensembl chr 5:56,926,724...56,930,265
JBrowse link
G Il11ra1 interleukin 11 receptor subunit alpha 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,931,824...56,941,408
Ensembl chr 5:56,935,516...56,941,408
JBrowse link
G LOC100360821 rCG55159-like ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,199,931...57,203,964
Ensembl chr 5:57,200,000...57,204,070
JBrowse link
G Phf24 PHD finger protein 24 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:57,143,428...57,171,054
Ensembl chr 5:57,142,632...57,168,497
JBrowse link
G Rpp25l ribonuclease P/MRP subunit p25 like ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,878,420...56,879,956
Ensembl chr 5:56,876,316...56,880,013
JBrowse link
G Sigmar1 sigma non-opioid intracellular receptor 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 ClinVar PMID:28492532 NCBI chr 5:56,904,155...56,907,012
Ensembl chr 5:56,904,159...56,907,017
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia | ClinVar Annotator: match by term: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 6 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 6 OMIM
ClinVar
PMID:7182974 PMID:9536098 PMID:15034582 PMID:16247064 PMID:16321991 More... NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
JBrowse link
amyotrophic lateral sclerosis type 15 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ubqln2 ubiquilin 2 ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 15 OMIM
ClinVar
PMID:19377476 PMID:21857683 PMID:22560112 PMID:23138764 PMID:23312802 More... NCBI chr  X:17,853,086...17,856,505
Ensembl chr  X:17,853,114...17,856,505
JBrowse link
amyotrophic lateral sclerosis type 22 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tuba4a tubulin, alpha 4A ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 22 with frontotemporal dementia | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 22 OMIM
ClinVar
PMID:25374358 NCBI chr 9:76,709,617...76,714,327
Ensembl chr 9:76,709,614...76,713,918
JBrowse link
amyotrophic lateral sclerosis type 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fus Fus RNA binding protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis 6, autosomal recessive | ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6
DNA:mutations:cds:
OMIM
ClinVar
RGD
PMID:9536098 PMID:12840784 PMID:12858291 PMID:16199547 PMID:17576681 More... RGD:9685712 NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414
JBrowse link
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Amyotrophic lateral sclerosis type 6 ClinVar PMID:30103325 NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
JBrowse link
amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Park7 Parkinsonism associated deglycase ISO ClinVar Annotator: match by term: Guam disease ClinVar PMID:25741868 NCBI chr 5:161,353,718...161,376,993
Ensembl chr 5:161,353,719...161,376,970
JBrowse link
G Trpm7 transient receptor potential cation channel, subfamily M, member 7 susceptibility
no_association
ISO DNA:mutation:cds: p.T1482I (human)
ClinVar Annotator: match by term: Guam disease
CTD Direct Evidence: marker/mechanism
ClinVar
CTD
OMIM
RGD
PMID:25741868 PMID:16051700 PMID:19405049 RGD:5685005, RGD:5685008 NCBI chr 3:114,046,258...114,134,799
Ensembl chr 3:114,046,258...114,135,190
JBrowse link
Autosomal Dominant Diffuse Lewy Body Disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gba glucosylceramidase beta ISO ClinVar Annotator: match by term: Autosomal dominant diffuse Lewy body disease ClinVar PMID:1348297 PMID:1897529 PMID:1899336 PMID:1971142 PMID:2117855 More... NCBI chr 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263
JBrowse link
basal ganglia calcification term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfb platelet derived growth factor subunit B ISS OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISS OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISS OMIM:114100 | OMIM:213600 | OMIM:606656 | OMIM:615007 | OMIM:615483 MouseDO NCBI chr16:69,460,850...69,551,418
Ensembl chr16:69,460,462...69,521,711
JBrowse link
Bilateral Striatal Necrosis with Dystonia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mt-nd6 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 6 ISO ClinVar Annotator: match by term: Striatal necrosis, bilateral, with dystonia ClinVar PMID:12205655 PMID:14520668 PMID:14595656 PMID:16337195 NCBI chr MT:13,543...14,061
Ensembl chr MT:13,543...14,061
JBrowse link
biotin-responsive basal ganglia disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc19a3 solute carrier family 19 member 3 ISO ClinVar Annotator: match by term: Biotin-responsive basal ganglia disease | ClinVar Annotator: match by term: thiamine-responsive encephalopathy
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9536098 PMID:15871139 PMID:16199547 PMID:16790503 PMID:17576681 More... NCBI chr 9:84,275,722...84,299,368
Ensembl chr 9:84,277,024...84,299,337
JBrowse link
chromosome 3-linked frontotemporal dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chmp2b charged multivesicular body protein 2B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 OMIM
ClinVar
PMID:9536098 PMID:16041373 PMID:16431024 PMID:16807408 PMID:16941655 More... NCBI chr11:3,338,007...3,364,357
Ensembl chr11:3,337,494...3,385,181
JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 7 ClinVar PMID:28492532 NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801
JBrowse link
Copper-Overload Cirrhosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acta2 actin alpha 2, smooth muscle ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 1:231,746,527...231,759,307
Ensembl chr 1:231,746,548...231,759,554
JBrowse link
G Casp3 caspase 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Commd1 copper metabolism domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr14:96,880,463...96,984,494
Ensembl chr14:96,880,463...96,984,501
JBrowse link
G Hgf hepatocyte growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 4:18,673,736...18,745,582
Ensembl chr 4:18,677,101...18,745,409
JBrowse link
G Krt19 keratin 19 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr10:85,075,835...85,080,552
Ensembl chr10:85,066,802...85,171,799
JBrowse link
G Krt7 keratin 7 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 7:132,528,863...132,545,052
Ensembl chr 7:132,528,895...132,545,052
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
JBrowse link
G Mki67 marker of proliferation Ki-67 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 1:190,496,319...190,522,983
Ensembl chr 1:190,496,319...190,522,762
JBrowse link
G Smad2 SMAD family member 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr18:69,849,884...69,918,926
Ensembl chr18:69,850,377...69,912,323
JBrowse link
G Stat3 signal transducer and activator of transcription 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr10:85,811,206...85,863,057
Ensembl chr10:85,811,218...85,863,057
JBrowse link
G Tgfb1 transforming growth factor, beta 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:22879914 NCBI chr 1:81,196,532...81,212,848
Ensembl chr 1:81,196,532...81,212,847
JBrowse link
Dystonia Musculorum Deformans term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tor1a torsin family 1, member A TAS RGD PMID:12671990 RGD:634735 NCBI chr 3:14,250,667...14,257,704
Ensembl chr 3:14,250,676...14,257,691
JBrowse link
DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mecr mitochondrial trans-2-enoyl-CoA reductase ISO ClinVar Annotator: match by term: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:25741868 PMID:27817865 PMID:28492532 More... NCBI chr 5:144,029,684...144,056,373
Ensembl chr 5:144,029,731...144,055,863
JBrowse link
frontotemporal dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abca7 ATP binding cassette subfamily A member 7 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 PMID:26101835 PMID:28097223 PMID:28400126 PMID:28789839 More... NCBI chr 7:9,691,452...9,711,466
Ensembl chr 7:9,691,449...9,711,425
JBrowse link
G Ang angiogenin ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:28166811 PMID:28492532 NCBI chr15:24,317,733...24,323,361 JBrowse link
G Arsa arylsulfatase A ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:1353340 PMID:10477432 PMID:12809637 PMID:16678723 PMID:18693274 More... NCBI chr 7:120,542,788...120,547,577
Ensembl chr 7:120,543,362...120,548,783
JBrowse link
G Bace2 beta-secretase 2 ISO mRNA,protein, activity:increased expression, increased activity:gyrus: RGD PMID:22074738 RGD:13782172 NCBI chr11:36,707,473...36,789,550
Ensembl chr11:36,707,458...36,789,546
JBrowse link
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101
JBrowse link
G Chmp2b charged multivesicular body protein 2B no_association ISO DNA:mutations:cds
ClinVar Annotator: match by term: Frontotemporal dementia
CTD Direct Evidence: marker/mechanism
DNA:mutations: :
ClinVar
CTD
RGD
PMID:16041373 PMID:26467025 PMID:28492532 PMID:16041373 PMID:16979267 More... RGD:5688398, RGD:5688721, RGD:5688716 NCBI chr11:3,338,007...3,364,357
Ensembl chr11:3,337,494...3,385,181
JBrowse link
G Chrna4 cholinergic receptor nicotinic alpha 4 subunit ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:28492532 NCBI chr 3:168,136,246...168,157,839
Ensembl chr 3:168,136,266...168,156,957
JBrowse link
G Chrnb4 cholinergic receptor nicotinic beta 4 subunit ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr 8:55,418,379...55,436,967
Ensembl chr 8:55,418,313...55,437,027
JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:18628315 PMID:21094706 PMID:28492532 NCBI chr10:89,040,203...89,083,481
Ensembl chr10:89,040,203...89,083,481
JBrowse link
G Csf1r colony stimulating factor 1 receptor ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr18:54,546,673...54,590,418
Ensembl chr18:54,546,659...54,590,415
JBrowse link
G Dctn1 dynactin subunit 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:28492532 NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
JBrowse link
G Erbb4 erb-b2 receptor tyrosine kinase 4 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr 9:69,523,733...70,596,743
Ensembl chr 9:69,531,481...70,596,595
JBrowse link
G Fus Fus RNA binding protein ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:22863194 PMID:25382069 PMID:25558820 PMID:25741868 PMID:26467025 More... NCBI chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414
JBrowse link
G Glt8d1 glycosyltransferase 8 domain containing 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr16:6,192,269...6,207,227
Ensembl chr16:6,192,300...6,207,229
JBrowse link
G Grn granulin precursor ISO DNA:mutations, haploinsufficiency: :
ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: GRN-Related Frontotemporal Dementia
CTD Direct Evidence: marker/mechanism
DNA:deletion:exon:
DNA:deletion: :g.102delC(humN)
DNA:missense mutation:signal peptide:p.A9D(human)
ClinVar
CTD
RGD
PMID:16862116 PMID:16950801 PMID:18234697 PMID:18723524 PMID:19158106 More... RGD:5509588, RGD:5509612, RGD:5509609, RGD:5509602, RGD:5509589 NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:23455423 PMID:25741868 NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249
JBrowse link
G Kansl1 KAT8 regulatory NSL complex subunit 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:18628315 PMID:21094706 PMID:28492532 NCBI chr10:89,237,667...89,368,735
Ensembl chr10:89,237,667...89,366,951
JBrowse link
G Lrrk2 leucine-rich repeat kinase 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar
RGD
PMID:17639429 RGD:5508418 NCBI chr 7:122,826,712...122,987,711
Ensembl chr 7:122,826,696...122,987,703
JBrowse link
G Mapt microtubule-associated protein tau no_association ISO DNA:missense mutations, splice site mutations:exon, intron:multiple
ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS | ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia
CTD Direct Evidence: marker/mechanism
DNA:mutation:splice junction: IVS10+16C>T(human)
DNA:haplotype
ClinVar
CTD
OMIM
RGD
PMID:1416801 PMID:7783864 PMID:7936288 PMID:7977375 PMID:8673924 More... RGD:1302531, RGD:10412702, RGD:10412699, RGD:8158108 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129
JBrowse link
G Marchf4 membrane associated ring-CH-type finger 4 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:29476165 NCBI chr 9:74,078,437...74,196,070
Ensembl chr 9:74,078,434...74,198,199
JBrowse link
G Masp2 MBL associated serine protease 2 ISO ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia ClinVar PMID:24033266 PMID:28492532 NCBI chr 5:159,035,892...159,049,561
Ensembl chr 5:159,035,911...159,049,580
JBrowse link
G Mef2c myocyte enhancer factor 2C ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr 2:13,973,299...14,136,065
Ensembl chr 2:13,993,438...14,132,880
JBrowse link
G Mobp myelin-associated oligodendrocyte basic protein disease_progression ISO DNA:SNP: :rs1768208(human) RGD PMID:24994843 RGD:27226701 NCBI chr 8:119,869,504...119,899,605
Ensembl chr 8:119,869,626...119,899,563
JBrowse link
G Nefl neurofilament light chain ISO protein:increased expression:CSF (human) RGD PMID:29391125 RGD:127285384 NCBI chr15:42,301,920...42,305,793
Ensembl chr15:42,301,916...42,305,793
JBrowse link
G Optn optineurin ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
JBrowse link
G Pou1f1 POU class 1 homeobox 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:26467025 PMID:28492532 NCBI chr11:3,316,818...3,334,804
Ensembl chr11:3,317,058...3,334,801
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase disease_progression ISO RGD PMID:18817929 RGD:10412726 NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
JBrowse link
G Psen1 presenilin 1 ISO ClinVar Annotator: match by term: FTLD WITH TAU INCLUSIONS | ClinVar Annotator: match by term: Frontotemporal dementia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:11094121 PMID:11389157 PMID:11895378 PMID:15776278 PMID:17431506 More... NCBI chr 6:103,323,014...103,375,088
Ensembl chr 6:103,323,120...103,371,650
JBrowse link
G Rnase4 ribonuclease A family member 4 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:28166811 PMID:28492532 NCBI chr15:24,312,765...24,330,116
Ensembl chr15:24,312,464...24,330,117
JBrowse link
G Setx senataxin ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:26467025 PMID:28492532 NCBI chr 3:12,428,091...12,480,801
Ensembl chr 3:12,427,635...12,480,803
JBrowse link
G Sppl2c signal peptide peptidase like 2C ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:18628315 PMID:21094706 PMID:28492532 NCBI chr10:89,095,254...89,097,487
Ensembl chr10:89,095,261...89,098,580
JBrowse link
G Tardbp TAR DNA binding protein ISS
ISO
OMIM:600274 | OMIM:600795
ClinVar Annotator: match by term: Frontotemporal dementia | ClinVar Annotator: match by term: Multiple system tauopathy with presenile dementia
MouseDO
ClinVar
PMID:19411082 PMID:20082726 PMID:20675015 PMID:20708823 PMID:22575358 More... NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
JBrowse link
G Tm2d3 TM2 domain containing 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr 1:119,264,576...119,277,099
Ensembl chr 1:119,264,576...119,277,099
JBrowse link
G Tnk1 tyrosine kinase, non-receptor, 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 NCBI chr10:54,571,396...54,580,547
Ensembl chr10:54,571,117...54,579,940
JBrowse link
G Trem2 triggering receptor expressed on myeloid cells 2 ISS
ISO
OMIM:600274 | OMIM:600795
ClinVar Annotator: match by term: Frontotemporal dementia
MouseDO
ClinVar
PMID:23582655 PMID:24119542 PMID:25186855 PMID:25741868 PMID:28492532 More... NCBI chr 9:12,647,605...12,654,190
Ensembl chr 9:12,647,259...12,654,170
JBrowse link
G Vps13c vacuolar protein sorting 13 homolog C ISO ClinVar Annotator: match by term: Frontotemporal dementia ClinVar PMID:25741868 PMID:29770609 PMID:31836585 NCBI chr 8:68,478,366...68,651,893
Ensembl chr 8:68,478,395...68,651,895
JBrowse link
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adam10 ADAM metallopeptidase domain 10 ISO ClinVar Annotator: match by term: Corticobasal syndrome ClinVar PMID:25741868 NCBI chr 8:71,346,008...71,477,889
Ensembl chr 8:71,345,837...71,477,889
JBrowse link
G RGD1359108 similar to RIKEN cDNA 3110043O21 ISO ClinVar Annotator: match by term: Amyotrophic Lateral Sclerosis/Frontotemporal Dementia ClinVar NCBI chr 5:49,766,340...49,791,434
Ensembl chr 5:49,766,325...49,791,408
JBrowse link
G Ttc3 tetratricopeptide repeat domain 3 ISO ClinVar Annotator: match by term: Corticobasal syndrome ClinVar PMID:25741868 NCBI chr11:33,689,119...33,788,976
Ensembl chr11:33,688,952...33,788,975
JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis-1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Adamts2 ADAM metallopeptidase with thrombospondin type 1 motif, 2 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:34,920,996...35,126,465
Ensembl chr10:34,921,049...35,123,821
JBrowse link
G Canx calnexin ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:34,623,865...34,656,866
Ensembl chr10:34,625,191...34,656,821
JBrowse link
G Cby3 chibby family member 3 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:34,680,926...34,683,176
Ensembl chr10:34,677,770...34,682,784
JBrowse link
G Hnrnph1 heterogeneous nuclear ribonucleoprotein H1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:34,692,868...34,702,849
Ensembl chr10:34,693,555...34,702,846
JBrowse link
G Ltc4s leukotriene C4 synthase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:34,560,476...34,562,790
Ensembl chr10:34,560,360...34,562,651
JBrowse link
G Maml1 mastermind-like transcriptional coactivator 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:34,588,639...34,624,298
Ensembl chr10:34,588,646...34,623,338
JBrowse link
G Mgat4b alpha-1,3-mannosyl-glycoprotein 4-beta-N-acetylglucosaminyltransferase B ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:34,548,918...34,559,229
Ensembl chr10:34,549,433...34,559,229
JBrowse link
G RGD1359108 similar to RIKEN cDNA 3110043O21 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:25741868 PMID:26769963 PMID:28492532 NCBI chr 5:49,766,340...49,791,434
Ensembl chr 5:49,766,325...49,791,408
JBrowse link
G Rufy1 RUN and FYVE domain containing 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr10:34,705,741...34,750,644
Ensembl chr10:34,705,741...34,750,644
JBrowse link
G Spata31d1c spermatogenesis associated 31 subfamily D, member 1C ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:26925868 PMID:28492532 NCBI chr17:160,144...164,208
Ensembl chr17:159,398...164,270
JBrowse link
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 ClinVar PMID:9536098 PMID:11992264 PMID:12374763 PMID:14584883 PMID:15125799 More... NCBI chr10:34,525,517...34,536,685
Ensembl chr10:34,525,519...34,536,673
JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis-2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chchd10 coiled-coil-helix-coiled-coil-helix domain containing 10 ISO ClinVar Annotator: match by term: FTDALS2 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 OMIM
ClinVar
PMID:9536098 PMID:17576681 PMID:22535186 PMID:24934289 PMID:25113787 More... NCBI chr20:12,725,839...12,727,638
Ensembl chr20:12,725,842...12,732,763
JBrowse link
G RGD1564162 similar to Homo sapiens fetal lung specific expression unknown ISO ClinVar Annotator: match by term: FTDALS2 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 ClinVar PMID:28492532 NCBI chr20:12,721,738...12,725,864
Ensembl chr20:12,723,160...12,726,059
JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis-3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sqstm1 sequestosome 1 ISO ClinVar Annotator: match by term: FTDALS3 | ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3 OMIM
ClinVar
PMID:11992264 PMID:14584883 PMID:15176995 PMID:15493999 PMID:15647816 More... NCBI chr10:34,525,517...34,536,685
Ensembl chr10:34,525,519...34,536,673
JBrowse link
frontotemporal dementia and/or amyotrophic lateral sclerosis-4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kif5a kinesin family member 5A ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 ClinVar PMID:25741868 NCBI chr 7:63,051,894...63,089,024
Ensembl chr 7:63,049,424...63,092,858
JBrowse link
G Tbk1 TANK-binding kinase 1 ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 OMIM
ClinVar
PMID:9536098 PMID:16199547 PMID:17576681 PMID:21447600 PMID:24033266 More... NCBI chr 7:57,077,830...57,110,868
Ensembl chr 7:57,077,830...57,110,892
JBrowse link
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccnf cyclin F ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 5 OMIM
ClinVar
PMID:27080313 NCBI chr10:13,253,073...13,279,140
Ensembl chr10:13,253,380...13,279,101
JBrowse link
Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis-8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cyld CYLD lysine 63 deubiquitinase ISO ClinVar Annotator: match by term: Frontotemporal dementia and/or amyotrophic lateral sclerosis 8 OMIM
ClinVar
PMID:23338750 PMID:32185393 NCBI chr19:18,310,632...18,373,696
Ensembl chr19:18,314,019...18,373,658
JBrowse link
Gilles de la Tourette syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Baiap2 BAR/IMD domain containing adaptor protein 2 ISO DNA:snps, haplotype:multiple (human) RGD PMID:15303240 RGD:11576298 NCBI chr10:105,223,065...105,290,130
Ensembl chr10:105,223,090...105,290,134
JBrowse link
G Celsr3 cadherin, EGF LAG seven-pass G-type receptor 3 ISO ClinVar Annotator: match by term: Tourette syndrome ClinVar PMID:30257206 NCBI chr 8:109,530,597...109,558,360
Ensembl chr 8:109,530,641...109,558,354
JBrowse link
G Drd2 dopamine receptor D2 treatment IEP mRNA:increased expression:striatum (rat) RGD PMID:19467315 PMID:22876458 RGD:2311576, RGD:6907444 NCBI chr 8:49,708,903...49,772,888
Ensembl chr 8:49,708,927...49,772,875
JBrowse link
G Drd3 dopamine receptor D3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:10523822 NCBI chr11:56,879,689...56,931,901
Ensembl chr11:56,879,689...56,940,596
JBrowse link
G Drd4 dopamine receptor D4 susceptibility
no_association
ISO DNA:duplication:exon:g.2689_2737dup (human) RGD PMID:25258183 PMID:8725747 RGD:13209010, RGD:13210516 NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553
JBrowse link
G Hcn4 hyperpolarization activated cyclic nucleotide-gated potassium channel 4 ISO RGD PMID:22683190 RGD:9693691 NCBI chr 8:59,222,206...59,259,626
Ensembl chr 8:59,221,653...59,259,639
JBrowse link
G Hdc histidine decarboxylase ISO ClinVar Annotator: match by term: Tourette syndrome OMIM
ClinVar
PMID:20445167 PMID:24411733 PMID:25741868 NCBI chr 3:113,847,256...113,865,334
Ensembl chr 3:113,847,260...113,865,341
JBrowse link
G Met MET proto-oncogene, receptor tyrosine kinase ISS OMIM:137580 MouseDO NCBI chr 4:45,790,456...45,898,139
Ensembl chr 4:45,790,791...45,897,876
JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISS OMIM:137580 MouseDO NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413
JBrowse link
G Slitrk1 SLIT and NTRK-like family, member 1 ISO ClinVar Annotator: match by term: Tourette syndrome OMIM
ClinVar
PMID:17003809 PMID:17035247 PMID:18413575 PMID:19018236 PMID:20351724 More... NCBI chr15:85,723,252...85,727,290
Ensembl chr15:85,724,475...85,727,509
JBrowse link
G Sox5 SRY-box transcription factor 5 ISO ClinVar Annotator: match by term: Tourette syndrome ClinVar NCBI chr 4:176,781,375...177,736,833
Ensembl chr 4:176,785,892...177,736,852
JBrowse link
G Tdo2 tryptophan 2,3-dioxygenase ISO RGD PMID:8873217 RGD:1358595 NCBI chr 2:167,269,581...167,287,511
Ensembl chr 2:167,269,579...167,287,511
JBrowse link
GRN-related frontotemporal lobar degeneration with TDP43 inclusions term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asb16 ankyrin repeat and SOCS box-containing 16 ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,225,976...87,233,078
Ensembl chr10:87,225,912...87,233,078
JBrowse link
G Atxn7l3 ataxin 7-like 3 ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,242,843...87,250,186
Ensembl chr10:87,243,587...87,250,620
JBrowse link
G G6pc3 glucose 6 phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,146,987...87,151,223
Ensembl chr10:87,146,901...87,151,221
JBrowse link
G Grn granulin precursor ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar
OMIM
RGD
PMID:6497355 PMID:9152110 PMID:9259373 PMID:9536098 PMID:9633693 More... RGD:5509604 NCBI chr10:87,387,672...87,393,777
Ensembl chr10:87,387,638...87,393,775
JBrowse link
G Hdac5 histone deacetylase 5 ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,152,978...87,187,921
Ensembl chr10:87,152,978...87,188,235
JBrowse link
G Hrob homologous recombination factor with OB-fold ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,206,017...87,222,483
Ensembl chr10:87,206,049...87,222,483
JBrowse link
G Lsm12 LSM12 homolog ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,118,334...87,140,395
Ensembl chr10:87,118,416...87,140,396
JBrowse link
G Rundc3a RUN domain containing 3A ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,352,624...87,361,767
Ensembl chr10:87,352,646...87,361,765
JBrowse link
G Slc25a39 solute carrier family 25, member 39 ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,362,494...87,367,358
Ensembl chr10:87,362,490...87,367,260
JBrowse link
G Slc4a1 solute carrier family 4 member 1 (Diego blood group) ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,306,865...87,323,132
Ensembl chr10:87,306,872...87,323,117
JBrowse link
G Tardbp TAR DNA binding protein ISS OMIM:607485 MouseDO NCBI chr 5:159,050,518...159,062,218
Ensembl chr 5:159,051,799...159,062,055
JBrowse link
G Tmub2 transmembrane and ubiquitin-like domain containing 2 ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,238,543...87,242,968
Ensembl chr10:87,238,548...87,242,779
JBrowse link
G Ubtf upstream binding transcription factor ISO ClinVar Annotator: match by term: Grn-related frontotemporal lobar degeneration with Tdp43 inclusions ClinVar PMID:28492532 NCBI chr10:87,258,217...87,274,291
Ensembl chr10:87,258,217...87,272,969
JBrowse link
Huntington's disease term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Abat 4-aminobutyrate aminotransferase treatment IMP
ISO
RGD PMID:152600 PMID:6237280 RGD:10047058, RGD:10046047 NCBI chr10:6,996,688...7,092,835
Ensembl chr10:6,999,819...7,092,835
JBrowse link
G Ache acetylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr12:19,407,359...19,413,713
Ensembl chr12:19,407,360...19,413,651
JBrowse link
G Adipoq adiponectin, C1Q and collagen domain containing ISO protein:decreased expression:plasma RGD PMID:19124532 RGD:5686822 NCBI chr11:77,721,912...77,735,644
Ensembl chr11:77,721,912...77,735,564
JBrowse link
G Agtr1a angiotensin II receptor, type 1a ISO protein:decreased expression:putamen: RGD PMID:8666063 RGD:10047397 NCBI chr17:34,173,446...34,226,892
Ensembl chr17:34,174,429...34,226,946
JBrowse link
G Aifm1 apoptosis inducing factor, mitochondria associated 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chr  X:127,650,223...127,689,356
Ensembl chr  X:127,650,226...127,689,256
JBrowse link
G Apoa4 apolipoprotein A4 ISO protein:increased expression:cerebrospinal fluid (human) RGD PMID:21297956 RGD:5147768 NCBI chr 8:46,539,083...46,541,464
Ensembl chr 8:46,539,082...46,541,469
JBrowse link
G Atf2 activating transcription factor 2 ISO RGD PMID:15878807 RGD:10047400 NCBI chr 3:58,718,323...58,795,280
Ensembl chr 3:58,718,332...58,795,236
JBrowse link
G Atf5 activating transcription factor 5 ISO CTD Direct Evidence: marker/mechanism CTD PMID:28861715 NCBI chr 1:95,295,602...95,299,755
Ensembl chr 1:95,295,610...95,299,707
JBrowse link
G Atrx ATRX, chromatin remodeler ISO RGD PMID:22240898 RGD:11040584 NCBI chr  X:70,850,981...70,997,330
Ensembl chr  X:70,850,981...70,997,330
JBrowse link
G Bag1 BAG cochaperone 1 treatment ISO RGD PMID:18400759 RGD:13506921 NCBI chr 5:56,068,494...56,081,075
Ensembl chr 5:56,068,494...56,081,075
JBrowse link
G Bax BCL2 associated X, apoptosis regulator treatment IEP RGD PMID:11299004 PMID:18938217 RGD:10054041, RGD:10054048 NCBI chr 1:95,940,001...95,945,407
Ensembl chr 1:95,938,808...95,945,368
JBrowse link
G Bche butyrylcholinesterase ISO protein:decreased expression:cerebrospinal fluid RGD PMID:2953866 RGD:5688127 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148
JBrowse link
G Bcl2 BCL2, apoptosis regulator IEP RGD PMID:11299004 RGD:10054041 NCBI chr13:22,689,783...22,853,920 JBrowse link
G Bdnf brain-derived neurotrophic factor treatment ISO mRNA, protein:decreased expression:cerebral cortex RGD PMID:18093249 PMID:17885687 PMID:19499586 RGD:10058981, RGD:10415531, RGD:10059353 NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
JBrowse link
G Casp3 caspase 3 treatment ISO RGD PMID:10888929 PMID:15668790 RGD:13432082, RGD:10413886 NCBI chr16:45,662,910...45,681,171
Ensembl chr16:45,662,910...45,684,648
JBrowse link
G Casp8 caspase 8 ISO protein:altered localization:cerebellum: RGD PMID:10197541 RGD:734695 NCBI chr 9:60,263,863...60,312,542
Ensembl chr 9:60,264,075...60,312,542
JBrowse link
G Casp9 caspase 9 severity ISO protein:increased expression:caudate nucleus:
protein:increased expression:striatum:
RGD PMID:12095160 PMID:12095160 RGD:13432083, RGD:13432083 NCBI chr 5:154,108,872...154,126,628
Ensembl chr 5:154,109,046...154,126,626
JBrowse link
G Cat catalase IEP protein:decreased expression:brain RGD PMID:19445928 RGD:5130752 NCBI chr 3:89,842,393...89,874,577
Ensembl chr 3:89,842,399...89,874,478
JBrowse link
G Cebpa CCAAT/enhancer binding protein alpha treatment ISO protein:altered localization:liver (mouse) RGD PMID:21651979 PMID:17213233 RGD:6484269, RGD:10401191 NCBI chr 1:87,759,631...87,762,303
Ensembl chr 1:87,759,433...87,762,412
JBrowse link
G Cebpb CCAAT/enhancer binding protein beta ISO protein:increased expression:brain (mouse) RGD PMID:14749423 RGD:10401227 NCBI chr 3:156,398,035...156,399,466
Ensembl chr 3:156,397,052...156,399,473
JBrowse link
G Chat choline O-acetyltransferase ISO mRNA:decreased expression:cerebral cortex RGD PMID:16987871 RGD:5686805 NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093
JBrowse link
G Cib1 calcium and integrin binding 1 ISO mRNA:increased expression:head of caudate nucleus (mouse) RGD PMID:24324398 RGD:10401859 NCBI chr 1:134,178,331...134,183,895
Ensembl chr 1:134,178,331...134,213,423
JBrowse link
G Cnr1 cannabinoid receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chr 5:48,408,543...48,436,099
Ensembl chr 5:48,408,574...48,435,099
JBrowse link
G Cnr2 cannabinoid receptor 2 ISO
IDA
RGD PMID:19115380 PMID:19115380 RGD:2316196, RGD:2316196 NCBI chr 5:148,125,222...148,151,548
Ensembl chr 5:148,125,604...148,151,548
JBrowse link
G Cntf ciliary neurotrophic factor treatment IDA
ISO
human gene in a cynomolgus monkey model RGD PMID:12040055 PMID:9121555 RGD:628474, RGD:734795 NCBI chr 1:209,887,854...209,889,877
Ensembl chr 1:209,887,854...209,889,877
JBrowse link
G Creb1 cAMP responsive element binding protein 1 ISO
IEP
protein:decreased phosphorylation:neuron: RGD PMID:11967539 PMID:16420411 RGD:734817, RGD:10059577 NCBI chr 9:65,903,511...65,972,562
Ensembl chr 9:65,903,547...65,970,816
JBrowse link
G Crebbp CREB binding protein treatment
disease_progression
ISO protein:altered localization:nucleus RGD PMID:19291221 PMID:20448484 PMID:11264541 RGD:10059583, RGD:13432094, RGD:13432093 NCBI chr10:11,335,551...11,461,888
Ensembl chr10:11,335,953...11,461,888
JBrowse link
G Ctsh cathepsin H ISO protein:increased expression:caudate nucleus RGD PMID:7561949 RGD:5686393 NCBI chr 8:90,608,941...90,627,824
Ensembl chr 8:90,608,941...90,627,824
JBrowse link
G Cycs cytochrome c, somatic severity ISO protein:altered localization:cytosol RGD PMID:12095160 RGD:13432083 NCBI chr 4:79,651,894...79,653,994
Ensembl chr 4:79,651,378...79,654,054
JBrowse link
G Diablo diablo, IAP-binding mitochondrial protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:12930891 NCBI chr12:33,055,784...33,070,400
Ensembl chr12:33,055,263...33,070,387
JBrowse link
G Dlg4 discs large MAGUK scaffold protein 4 ISO protein:decreased expression:cerebral cortex, synapse
protein:decreased expression:prefrontal cortex
RGD PMID:25568121 PMID:24728190 RGD:13432154, RGD:13432155 NCBI chr10:54,740,700...54,769,097
Ensembl chr10:54,739,470...54,767,153
JBrowse link
G Dnah6 dynein, axonemal, heavy chain 6 treatment ISO RGD PMID:24282028 RGD:13432158 NCBI chr 4:105,064,123...105,284,361
Ensembl chr 4:105,064,125...105,284,376
JBrowse link
G Drd1 dopamine receptor D1 IEP
ISS
ISO
OMIM:143100
protein:decreased expression:cerebral cortex (mouse)
MouseDO
RGD
PMID:18815258 PMID:16905556 PMID:12111832 RGD:2302117, RGD:7248682, RGD:5686414 NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002
JBrowse link
G Drd2 dopamine receptor D2 ISO protein:decreased expression:cerebral cortex (mouse) RGD PMID:12111832 PMID:16905556 RGD:5686414, RGD:7248682 NCBI chr 8:49,708,903...49,772,888
Ensembl chr 8:49,708,927...49,772,875
JBrowse link
G Drd3 dopamine receptor D3 ISO RGD PMID:12111832 RGD:5686414 NCBI chr11:56,879,689...56,931,901
Ensembl chr11:56,879,689...56,940,596
JBrowse link
G Drd5 dopamine receptor D5 ISO RGD PMID:12111832 RGD:5686414 NCBI chr14:72,489,347...72,490,774
Ensembl chr14:72,489,347...72,490,774
JBrowse link
G Dusp1 dual specificity phosphatase 1 treatment IMP RGD PMID:23392662 RGD:7771544 NCBI chr10:16,680,489...16,683,276 JBrowse link
G Dynlt1 dynein light chain Tctex-type 1 treatment ISO RGD PMID:24282028 RGD:13432158 NCBI chr 1:46,887,017...46,893,956
Ensembl chr 1:46,887,017...46,893,881
JBrowse link
G E2f1 E2F transcription factor 1 IEP protein:increased expression:brain RGD PMID:18768156 RGD:2316262 NCBI chr 3:143,064,535...143,075,362
Ensembl chr 3:143,049,478...143,075,361
JBrowse link
G Egfr epidermal growth factor receptor ISO RGD PMID:12890790 RGD:10047165 NCBI chr14:91,176,931...91,349,722
Ensembl chr14:91,177,067...91,344,382
JBrowse link
G Egr1 early growth response 1 ISO RGD PMID:12191502 RGD:10395281 NCBI chr18:26,463,333...26,465,531
Ensembl chr18:26,462,981...26,466,766
JBrowse link
G Eif2ak2 eukaryotic translation initiation factor 2-alpha kinase 2 ISO RGD PMID:11468270 PMID:15567511 RGD:10395345, RGD:10395348 NCBI chr 6:16,189,000...16,224,972
Ensembl chr 6:16,188,979...16,224,971
JBrowse link
G Elk1 ETS transcription factor ELK1 ISO RGD PMID:20126313 RGD:7488914 NCBI chr  X:1,138,826...1,155,713
Ensembl chr  X:1,139,756...1,155,713
JBrowse link
G Ep300 E1A binding protein p300 ISO RGD PMID:12586550 RGD:13432192 NCBI chr 7:113,108,476...113,178,529
Ensembl chr 7:113,106,247...113,136,088
Ensembl chr 7:113,106,247...113,136,088
JBrowse link
G F2 coagulation factor II ISO protein:increased expression:cerebrospinal fluid RGD PMID:21297956 RGD:5147768 NCBI chr 3:77,596,196...77,609,486
Ensembl chr 3:77,596,198...77,609,486
JBrowse link
G Faah fatty acid amide hydrolase ISO CTD Direct Evidence: marker/mechanism CTD PMID:20929960 NCBI chr 5:129,479,774...129,499,018
Ensembl chr 5:129,479,824...129,498,677
JBrowse link
G Fas Fas cell surface death receptor ISO protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chr 1:231,798,963...231,832,591
Ensembl chr 1:231,798,960...231,832,591
JBrowse link
G Faslg Fas ligand ISO protein:decreased expression:putamen,caudate: RGD PMID:11054182 RGD:12903948 NCBI chr13:74,151,519...74,172,760
Ensembl chr13:74,154,954...74,162,215
JBrowse link
G Foxp1 forkhead box P1 ISO mRNA:decreased expression:striatum (mouse)
mRNA:decreased expression:caudate nucleus (human)
RGD PMID:16405510 PMID:16405510 RGD:11560524, RGD:11560524 NCBI chr 4:131,559,599...132,155,092
Ensembl chr 4:131,564,756...132,112,258
JBrowse link
G Gapdh glyceraldehyde-3-phosphate dehydrogenase ISO RGD PMID:26268247 RGD:13792684 NCBI chr 4:157,962,312...157,967,158
Ensembl chr 4:157,962,343...157,966,235
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO CTD Direct Evidence: therapeutic CTD PMID:16943855 NCBI chr 2:56,893,992...56,919,935
Ensembl chr 2:56,895,010...56,917,209
JBrowse link
G Git1 GIT ArfGAP 1 ISO protein:decreased expression:cerebral cortex (human) RGD PMID:15383276 RGD:1549448 NCBI chr10:62,342,082...62,356,379
Ensembl chr10:62,342,299...62,356,373
JBrowse link
G Gja1 gap junction protein, alpha 1 ISO RGD PMID:10873295 RGD:7207854 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
G Glul glutamate-ammonia ligase ISO RGD PMID:6237280 PMID:3159462 RGD:10046047, RGD:13524508 NCBI chr13:65,969,064...66,035,121
Ensembl chr13:66,025,630...66,035,108
JBrowse link
G Gpx1 glutathione peroxidase 1 ISO RGD PMID:18588971 RGD:13432193 NCBI chr 8:109,026,905...109,028,031
Ensembl chr 8:109,026,905...109,028,024
JBrowse link
G Gpx6 glutathione peroxidase 6 ISO RGD PMID:18588971 RGD:13432193 NCBI chr17:43,408,472...43,416,091
Ensembl chr17:43,408,472...43,416,091
JBrowse link
G Grik2 glutamate ionotropic receptor kainate type subunit 2 onset ISO DNA:repeat: (human) RGD PMID:10522893 RGD:1358638 NCBI chr20:52,135,325...52,833,061
Ensembl chr20:52,133,851...52,838,375
JBrowse link
G Grin2a glutamate ionotropic receptor NMDA type subunit 2A onset ISO DNA:SNPs: :rs1969060 (human)
DNA:SNPs: :rs8057394, rs2650427 (human)
RGD PMID:17409241 PMID:15742215 PMID:17569088 RGD:13432195, RGD:13432556, RGD:13432554 NCBI chr10:5,630,684...6,043,341
Ensembl chr10:5,631,369...6,044,637
JBrowse link
G Grin2b glutamate ionotropic receptor NMDA type subunit 2B onset ISO DNA:SNPs: :2664C>T (rs1806201), 5072T>G (rs890) (human)
DNA:SNP: :2664C>T (rs1806201) (human)
RGD PMID:17409241 PMID:15742215 PMID:17569088 RGD:13432195, RGD:13432556, RGD:13432554 NCBI chr 4:168,580,824...169,044,110
Ensembl chr 4:168,599,546...169,042,279
JBrowse link
G Grm5 glutamate metabotropic receptor 5 treatment
disease_progression
ISO RGD PMID:23489026 PMID:15306259 PMID:25160573 PMID:24282028 RGD:13432558, RGD:13432562, RGD:13432561, RGD:13432158 NCBI chr 1:141,310,069...141,884,980
Ensembl chr 1:141,312,368...141,882,274
JBrowse link
G Gsr glutathione-disulfide reductase treatment IEP RGD PMID:11490092 RGD:10401927 NCBI chr16:58,482,209...58,525,256
Ensembl chr16:58,482,505...58,525,661
JBrowse link
G Haao 3-hydroxyanthranilate 3,4-dioxygenase IDA RGD PMID:2527078 RGD:13524507 NCBI chr 6:10,845,235...10,864,863
Ensembl chr 6:10,845,771...10,864,877
JBrowse link
G Hap1 huntingtin-associated protein 1 onset
no_association
ISO DNA:SNP: :p.T441M (human)
DNA:SNP: :rs4523977 (human)
DNA:SNP:multiple
RGD PMID:18192679 PMID:24324398 PMID:26000918 PMID:20512606 PMID:22402331 More... RGD:13432575, RGD:10401859, RGD:13432579, RGD:13432578, RGD:13432577, RGD:13432576, RGD:13432575 NCBI chr10:85,277,890...85,286,126
Ensembl chr10:85,277,890...85,286,126
JBrowse link
G Hdac1 histone deacetylase 1 ISO protein:increased expression:striatum:
mRNA:increased expression:cerebral cortex
RGD PMID:22918830 PMID:22965876 RGD:9590098, RGD:10402189 NCBI chr 5:141,853,992...141,881,057
Ensembl chr 5:141,853,989...141,881,111
JBrowse link
G Hdac3 histone deacetylase 3 ISO protein:increased expression:striatum:
mRNA:increased expression:cerebral cortex
RGD PMID:22918830 PMID:22965876 RGD:9590098, RGD:10402189 NCBI chr18:29,770,637...29,789,850
Ensembl chr18:29,770,636...29,793,856
JBrowse link
G Hdac7 histone deacetylase 7 ISO protein:decreased expression:brain: RGD PMID:21118817 RGD:9681718 NCBI chr 7:128,923,918...128,962,025
Ensembl chr 7:128,923,920...128,962,072
JBrowse link
G Hmgcr 3-hydroxy-3-methylglutaryl-CoA reductase ISO RGD PMID:17702587 RGD:5508462 NCBI chr 2:27,997,523...28,018,983
Ensembl chr 2:27,997,525...28,019,703
JBrowse link
G Hnmt histamine N-methyltransferase ISO RGD PMID:21106039 RGD:5509774 NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012
JBrowse link
G Hpca hippocalcin ISO mRNA:decreased expression:brain (human) RGD PMID:19686238 RGD:9693681 NCBI chr 5:141,455,616...141,466,252
Ensembl chr 5:141,455,613...141,463,841
JBrowse link
G Hsf1 heat shock transcription factor 1 treatment ISO human gene in a mouse model
protein:decreased expression:liver (mouse)
RGD PMID:16051598 PMID:19443488 PMID:24381308 RGD:10402372, RGD:10402387, RGD:10402386 NCBI chr 7:108,196,040...108,223,011
Ensembl chr 7:108,196,056...108,223,011
JBrowse link
G Hspa8 heat shock protein family A (Hsp70) member 8 ISO protein: increased expression RGD PMID:22171050 RGD:5688778 NCBI chr 8:41,183,397...41,187,260
Ensembl chr 8:41,183,264...41,187,259
JBrowse link
G Htra2 HtrA serine peptidase 2 ISO protein:increased expression:striatal neuron (mouse) RGD PMID:18662332 RGD:5688723 NCBI chr 4:115,556,914...115,560,202
Ensembl chr 4:115,556,916...115,560,095
JBrowse link
G Htt huntingtin onset
treatment
ISO
IMP
ClinVar Annotator: match by term: Huntington disease
CTD Direct Evidence: marker/mechanism
DNA:repeats:cds:CAG (human)
mRNA:altered expression:cortex, striatum:
ClinVar
CTD
OMIM
RGD
PMID:15218539 PMID:15312898 PMID:16137562 PMID:17018277 PMID:17925440 More... RGD:1302537, RGD:13452381, RGD:11062153, RGD:11062152, RGD:10403029, RGD:10403026, RGD:10402938, RGD:6902915 NCBI chr14:75,845,836...75,996,094
Ensembl chr14:75,845,836...75,995,070
JBrowse link
G Ift57 intraflagellar transport 57 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chr11:51,051,520...51,124,909
Ensembl chr11:51,059,611...51,124,812
JBrowse link
G Ift88 intraflagellar transport 88 ISO protein:altered localization:cilia RGD PMID:25989602 RGD:13432581 NCBI chr15:31,573,325...31,666,068
Ensembl chr15:31,573,376...31,672,147
JBrowse link
G Igf1 insulin-like growth factor 1 treatment ISO human protein in a rat model RGD PMID:23384443 PMID:15371744 PMID:25140802 RGD:10045865, RGD:12904970, RGD:10045870 NCBI chr 7:22,282,895...22,361,972
Ensembl chr 7:22,282,930...22,359,296
JBrowse link
G Igf1r insulin-like growth factor 1 receptor ISO RGD PMID:25140802 RGD:10045870 NCBI chr 1:121,549,839...121,838,545
Ensembl chr 1:121,550,743...121,831,777
JBrowse link
G Il6 interleukin 6 treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chr 4:5,214,602...5,219,178
Ensembl chr 4:5,213,394...5,219,178
JBrowse link
G Il6r interleukin 6 receptor treatment ISO RGD PMID:11860469 RGD:10402809 NCBI chr 2:175,289,157...175,347,719
Ensembl chr 2:175,298,686...175,347,536
JBrowse link
G Ip6k2 inositol hexakisphosphate kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21652713 NCBI chr 8:109,483,843...109,510,172
Ensembl chr 8:109,484,310...109,510,166
JBrowse link
G Itpr1 inositol 1,4,5-trisphosphate receptor, type 1 ISO
IEP
protein:decreased activity:cerebellum, striatum (mouse)
protein:decreased expression:neostriatum (rat)
RGD PMID:21145001 PMID:9761455 PMID:19193873 RGD:6480685, RGD:6483009, RGD:6480875 NCBI chr 4:141,187,377...141,554,240
Ensembl chr 4:141,187,418...141,510,491
JBrowse link
G Kdm5c lysine demethylase 5C ISO mRNA:increased expression:caudate nucleus (human) RGD PMID:23872847 RGD:9587806 NCBI chr  X:21,345,459...21,387,045
Ensembl chr  X:21,345,481...21,381,870
JBrowse link
G L1cam L1 cell adhesion molecule ISO RGD PMID:17093074 RGD:6483035 NCBI chr  X:151,597,270...151,623,776
Ensembl chr  X:151,597,277...151,623,857
JBrowse link
G Lep leptin IEP protein:decreased expression:serum RGD PMID:19573560 RGD:5128676 NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
JBrowse link
G Maoa monoamine oxidase A ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chr  X:6,032,172...6,098,308
Ensembl chr  X:6,030,795...6,099,593
JBrowse link
G Maob monoamine oxidase B ISO CTD Direct Evidence: marker/mechanism CTD PMID:21075085 NCBI chr  X:5,907,327...6,010,996
Ensembl chr  X:5,907,266...6,011,003
JBrowse link
G Map2 microtubule-associated protein 2 ISO RGD PMID:20092829 RGD:6483090 NCBI chr 9:67,723,422...67,981,886
Ensembl chr 9:67,723,371...67,979,809
JBrowse link
G Map3k5 mitogen-activated protein kinase kinase kinase 5 onset
treatment
ISO protein:increased expression:cortex,striatum,nucleus:
DNa:SNO:promoter:rs5880308(human)
RGD PMID:19646509 PMID:18327563 PMID:19646509 RGD:10412311, RGD:10412314, RGD:10412311 NCBI chr 1:14,685,776...14,904,935
Ensembl chr 1:14,685,492...14,904,800
JBrowse link
G Mbp myelin basic protein IEP protein:decreased expression:brain: RGD PMID:21906685 RGD:7349325 NCBI chr18:75,855,878...75,966,404
Ensembl chr18:75,855,878...75,966,404
JBrowse link
G Mir132 microRNA 132 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr10:60,023,696...60,023,796
Ensembl chr10:60,023,696...60,023,796
JBrowse link
G Mir22 microRNA 22 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr10:60,307,039...60,307,133
Ensembl chr10:60,307,039...60,307,133
JBrowse link
G Mir222 microRNA 222 ISO down-regulated RGD PMID:21035445 RGD:11041745 NCBI chr  X:3,428,904...3,429,006
Ensembl chr  X:3,428,904...3,429,006
JBrowse link
G Mir448 microRNA 448 ISO up-regulated RGD PMID:21035445 RGD:11041745 NCBI chr  X:110,829,918...110,830,029
Ensembl chr  X:110,829,918...110,830,029
JBrowse link
G Mmp9 matrix metallopeptidase 9 IEP protein:increased expression:striatum RGD PMID:21175737 RGD:13204827 NCBI chr 3:153,684,158...153,692,118
Ensembl chr 3:153,683,858...153,692,120
JBrowse link
G Msh2 mutS homolog 2 onset ISO RGD PMID:12554681 RGD:10412317 NCBI chr 6:6,813,793...6,872,960
Ensembl chr 6:6,813,795...6,872,938
JBrowse link
G Mt-co2 mitochondrially encoded cytochrome c oxidase II severity ISO RGD PMID:20660112 RGD:13506651 NCBI chr MT:7,006...7,689
Ensembl chr MT:7,006...7,689
JBrowse link
G Mt-nd3 mitochondrially encoded NADH:ubiquinone oxidoreductase core subunit 3 IMP RGD PMID:20480544 RGD:5687693 NCBI chr MT:9,451...9,798
Ensembl chr MT:9,451...9,798
JBrowse link
G Mtnr1a melatonin receptor 1A treatment ISO mRNA:decreased expression:brain RGD PMID:21994366 PMID:21994366 RGD:9686058, RGD:9686058 NCBI chr16:47,144,461...47,163,919
Ensembl chr16:47,144,461...47,163,919
JBrowse link
G Napepld N-acyl phosphatidylethanolamine phospholipase D ISO RGD PMID:23659592 RGD:10412654 NCBI chr 4:13,360,532...13,398,815
Ensembl chr 4:13,361,006...13,398,748
JBrowse link
G Ncor1 nuclear receptor co-repressor 1 ISO protein:decreased expression:temporal cortex, neuron, nucleus (human) RGD PMID:10441327 RGD:5688338 NCBI chr10:46,999,536...47,142,294
Ensembl chr10:46,999,536...47,141,032
JBrowse link
G Nfe2l2 NFE2 like bZIP transcription factor 2 IEP mRNA:increased expression:striatum RGD PMID:24008671 RGD:10412688 NCBI chr 3:60,594,239...60,621,785
Ensembl chr 3:60,594,242...60,621,737
JBrowse link
G Nfkb1 nuclear factor kappa B subunit 1 severity ISO RGD PMID:11211235 RGD:10045663 NCBI chr 2:224,016,214...224,132,135
Ensembl chr 2:224,016,214...224,110,404
JBrowse link
G Ngfr nerve growth factor receptor ISO mRNA:increased expression:caudate nucleus RGD PMID:18093249 RGD:10058981 NCBI chr10:80,515,287...80,533,518
Ensembl chr10:80,515,299...80,533,518
JBrowse link
G Nog noggin treatment ISO RGD PMID:17885687 RGD:10415531 NCBI chr10:74,128,712...74,130,339
Ensembl chr10:74,128,712...74,130,339
JBrowse link
G Nos3 nitric oxide synthase 3 IEP mRNA:increased expression:striatum (rat) RGD PMID:17850874 RGD:2292130 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166
JBrowse link
G Npy neuropeptide Y onset
no_association
ISO
IEP
DNA:SNP: :rs3037354 (human)
mRNA:decreased expression:hypothalamus
DNA:SNP: :rs16147 (human)
RGD PMID:24121255 PMID:1710657 PMID:23697793 PMID:24121255 RGD:10431606, RGD:10433553, RGD:10433112, RGD:10431606 NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495
JBrowse link
G Npy2r neuropeptide Y receptor Y2 onset ISO DNA:SNP: :rs2234759 (human) RGD PMID:24121255 RGD:10431606 NCBI chr 2:167,901,999...167,912,165
Ensembl chr 2:167,903,879...167,905,024
JBrowse link
G Nrf1 nuclear respiratory factor 1 onset ISO mRNA:decreased expression:striatum
DNA:SNPs: :rs6949152, rs7781972 (human)
RGD PMID:20529956 PMID:21595933 RGD:6771173, RGD:6770890 NCBI chr 4:58,664,932...58,772,328
Ensembl chr 4:58,664,957...58,825,328
JBrowse link
G Ogg1 8-oxoguanine DNA glycosylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:19857538 NCBI chr 4:146,474,701...146,481,959
Ensembl chr 4:146,474,750...146,484,766
JBrowse link
G Optn optineurin ISO protein:increased expression:neuron, nucleus RGD PMID:22318854 RGD:6480499 NCBI chr17:73,209,572...73,260,251
Ensembl chr17:73,209,575...73,260,251
JBrowse link
G Parp1 poly (ADP-ribose) polymerase 1 ISO protein:increased expression:neuron,astrocyte: RGD PMID:15668790 RGD:10413886 NCBI chr13:92,307,593...92,339,406
Ensembl chr13:92,307,586...92,339,404
JBrowse link
G Pcp4 Purkinje cell protein 4 ISO protein:decreased expression:substantium RGD PMID:9697113 RGD:9850159 NCBI chr11:35,759,711...35,861,725
Ensembl chr11:35,800,713...35,861,725
JBrowse link
G Plcb3 phospholipase C beta 3 ISO RGD PMID:22917585 RGD:13432582 NCBI chr 1:204,143,257...204,160,384
Ensembl chr 1:204,144,956...204,160,228
JBrowse link
G Polr2a RNA polymerase II subunit A ISO RGD PMID:20089533 RGD:10043799 NCBI chr10:54,452,438...54,478,486
Ensembl chr10:54,452,441...54,478,455
JBrowse link
G Ppard peroxisome proliferator-activated receptor delta ISS OMIM:143100 MouseDO NCBI chr20:6,298,785...6,363,970
Ensembl chr20:6,298,785...6,363,968
JBrowse link
G Ppargc1a PPARG coactivator 1 alpha onset
severity
no_association
treatment
ISO
IEP
IDA
DNA:SNPs, repeat, haplotype:promoter:rs17592631, rs2048025, rs11737023 (human)
protein:increased expression:subthalamic nucleus (rat)
DNA:snp:promoter:g.-1437T>C (rs2970870) (human)
protein:increased expression:brain (human)
DNA:missense mutation:cds:pT612M (rs3736265) (human)
DNA:snp:intron:IVS2-19637A>G (rs7665116) (human)
DNA:snps, haplotypes:multiple (human)
mRNA:decreased expression:medium spiny neuron (mouse)
mRNA:decreased expression:caudate nucleus (human)
RGD PMID:22589246 PMID:22813864 PMID:21211002 PMID:21757867 PMID:19133136 More... RGD:6484259, RGD:10395291, RGD:10395290, RGD:10395289, RGD:10053656, RGD:10053663, RGD:6770890, RGD:10053656, RGD:10053650, RGD:7242018, RGD:10053648, RGD:7242018, RGD:7242018, RGD:6484269 NCBI chr14:58,860,752...59,516,525
Ensembl chr14:58,861,144...59,512,656
JBrowse link
G Ppp1r1b protein phosphatase 1, regulatory (inhibitor) subunit 1B IEP RGD PMID:18502785 RGD:13515080 NCBI chr10:83,347,731...83,356,775
Ensembl chr10:83,347,731...83,356,775
JBrowse link
G Ppp1r9a protein phosphatase 1, regulatory subunit 9A ISO mRNA:decreased expression:striatum(mouse)
mRNA:decreased expression:caudate nucleus
RGD PMID:20089533 PMID:20089533 RGD:10043799, RGD:10043799 NCBI chr 4:32,970,501...33,292,360
Ensembl chr 4:33,024,450...33,286,907
JBrowse link
G Ppp3ca protein phosphatase 3 catalytic subunit alpha ISO RGD PMID:19733666 RGD:6483320 NCBI chr 2:225,165,981...225,440,978
Ensembl chr 2:225,165,766...225,438,974
JBrowse link
G Prkaa1 protein kinase AMP-activated catalytic subunit alpha 1 ISO protein:increased phosphorylation, altered localization:nucleus
protein:altered localization:nucleus
RGD PMID:21768291 PMID:21768291 RGD:6484534, RGD:6484534 NCBI chr 2:54,240,298...54,275,978
Ensembl chr 2:54,240,137...54,275,978
JBrowse link
G Prkn parkin RBR E3 ubiquitin protein ligase ISO RGD PMID:19464273 RGD:10412729 NCBI chr 1:48,688,651...49,882,520
Ensembl chr 1:48,690,556...49,882,555
JBrowse link
G Psmb9 proteasome 20S subunit beta 9 ISO RGD PMID:14684867 RGD:6483364 NCBI chr20:4,667,044...4,672,512
Ensembl chr20:4,666,046...4,672,512
JBrowse link
G Ptgs2 prostaglandin-endoperoxide synthase 2 IMP RGD PMID:21362433 RGD:5508227 NCBI chr13:62,164,080...62,169,770
Ensembl chr13:62,163,932...62,172,188
JBrowse link
G Qprt quinolinate phosphoribosyltransferase IDA RGD PMID:2527078 RGD:13524507 NCBI chr 1:181,718,189...181,733,486
Ensembl chr 1:181,718,190...181,733,486
JBrowse link
G Rcan1 regulator of calcineurin 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19270310 NCBI chr11:31,622,208...31,702,150
Ensembl chr11:31,622,210...31,702,045
JBrowse link
G Setdb1 SET domain bifurcated histone lysine methyltransferase 1 ISO protein:increased expression:neocortex, caudate nucleus (human) RGD PMID:17142323 RGD:9590159 NCBI chr 2:182,898,738...182,930,283
Ensembl chr 2:182,898,738...182,930,506
JBrowse link
G Sin3a SIN3 transcription regulator family member A ISO protein:altered localization:cytoplasm RGD PMID:10441327 RGD:5688338 NCBI chr 8:57,481,539...57,536,195
Ensembl chr 8:57,481,573...57,536,192
JBrowse link
G Sirt1 sirtuin 1 ISO human gene in a mouse model;DNA:repeat:exon:p.18(Q)82 (human)
protein:decreased expression:frontal cortex
RGD PMID:22179316 PMID:9949199 PMID:18538940 RGD:9585998, RGD:10395240, RGD:9586004 NCBI chr20:25,307,143...25,329,260
Ensembl chr20:25,306,917...25,329,260
JBrowse link
G Slc18a3 solute carrier family 18 member A3 ISO mRNA, protein:decreased expression:brain, spinal cord RGD PMID:16987871 RGD:5686805 NCBI chr16:7,713,630...7,716,491 JBrowse link
G Slc1a2 solute carrier family 1 member 2 ISO RGD PMID:9100675 PMID:17409241 RGD:13432194, RGD:13432195 NCBI chr 3:89,005,129...89,126,498
Ensembl chr 3:89,005,129...89,126,498
JBrowse link
G Slc29a1 solute carrier family 29 member 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:27567601 NCBI chr 9:15,399,661...15,414,203
Ensembl chr 9:15,399,612...15,414,203
JBrowse link
G Sod2 superoxide dismutase 2 susceptibility ISO RGD PMID:11161607 RGD:13464352 NCBI chr 1:47,638,318...47,645,163
Ensembl chr 1:47,636,528...47,645,189
JBrowse link
G Srsf6 serine and arginine rich splicing factor 6 ISO protein:increased expression:striatum (human) RGD PMID:25038828 RGD:11039484 NCBI chr 3:151,589,546...151,594,869
Ensembl chr 3:151,589,535...151,594,860
JBrowse link
G Syne3 spectrin repeat containing, nuclear envelope family member 3 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr 6:123,872,895...123,964,773
Ensembl chr 6:123,873,174...123,953,409
JBrowse link
G Tbp TATA box binding protein severity ISO protein:increased expression:middle frontal gyrus (human) RGD PMID:12531510 RGD:5684339 NCBI chr 1:56,463,330...56,480,430
Ensembl chr 1:56,463,618...56,510,016
JBrowse link
G Tfam transcription factor A, mitochondrial ISO mRNA:decreased expression:striatum RGD PMID:21595933 PMID:20529956 RGD:6770890, RGD:6771173 NCBI chr20:17,356,243...17,368,293
Ensembl chr20:17,356,197...17,368,292
JBrowse link
G Timp2 TIMP metallopeptidase inhibitor 2 ISO RGD PMID:12614934 RGD:1580169 NCBI chr10:103,541,199...103,590,611
Ensembl chr10:103,531,505...103,590,611
JBrowse link
G Trip10 thyroid hormone receptor interactor 10 ISO protein:increased expression:striatum RGD PMID:12604778 RGD:11535137 NCBI chr 9:2,133,085...2,147,795
Ensembl chr 9:2,133,671...2,147,799
JBrowse link
G Tug1 taurine up-regulated 1 ISO up-regulated RGD PMID:22202438 RGD:11073597 NCBI chr14:78,519,894...78,526,927
Ensembl chr14:78,522,506...78,526,927
JBrowse link
G Ucp1 uncoupling protein 1 treatment ISO mRNA, protein:decreased expression:brown adipose tissue (mouse) RGD PMID:20561979 PMID:17055784 RGD:10045649, RGD:10045650 NCBI chr19:24,808,782...24,816,853
Ensembl chr19:24,808,783...24,816,852
JBrowse link
G Ucp2 uncoupling protein 2 ISO mRNA:decreased expression:peripheral blood (human) RGD PMID:23029535 RGD:10045655 NCBI chr 1:154,839,242...154,845,612
Ensembl chr 1:154,839,209...154,845,611
JBrowse link
G Xpo5 exportin 5 ISO mRNA:increased expression:striatum (mouse) RGD PMID:21035445 RGD:11041745 NCBI chr 9:14,740,182...14,778,171
Ensembl chr 9:14,740,182...14,778,171
JBrowse link
G Zdhhc13 zinc finger DHHC-type palmitoyltransferase 13 ISS OMIM:143100 MouseDO NCBI chr 1:98,487,309...98,525,906
Ensembl chr 1:98,487,358...98,525,905
JBrowse link
G Zdhhc17 zinc finger DHHC-type palmitoyltransferase 17 ISS OMIM:143100 MouseDO NCBI chr 7:46,369,963...46,433,691
Ensembl chr 7:46,369,988...46,433,764
JBrowse link
Huntington's disease-like 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Prnp prion protein ISO ClinVar Annotator: match by term: Huntington disease-like 1 | ClinVar Annotator: match by term: PRION DISEASE, EARLY-ONSET, WITH PROMINENT PSYCHIATRIC FEATURES OMIM
ClinVar
PMID:1351274 PMID:1353341 PMID:1357663 PMID:1363809 PMID:1363810 More... NCBI chr 3:119,186,073...119,201,513
Ensembl chr 3:119,177,485...119,203,937
JBrowse link
Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis Pigmentosa, and Pallidal Degeneration term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pank2 pantothenate kinase 2 ISO ClinVar Annotator: match by term: Hypoprebetalipoproteinemia, acanthocytosis, retinitis pigmentosa, and pallidal degeneration OMIM
ClinVar
PMID:1734303 PMID:7898702 PMID:11479594 PMID:12058097 PMID:12510040 More... NCBI chr 3:118,483,382...118,519,551
Ensembl chr 3:118,483,444...118,518,320
JBrowse link
Idiopathic Basal Ganglia Calcification 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chrna6 cholinergic receptor nicotinic alpha 6 subunit ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:64,697,741...64,704,441
Ensembl chr16:64,697,741...64,704,441
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 chr16:64,713,438...64,751,360
Ensembl chr16:64,714,169...64,751,360
JBrowse link
G Duox2 dual oxidase 2 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar NCBI chr 3:109,223,809...109,247,023
Ensembl chr 3:109,226,924...109,245,902
JBrowse link
G Fnta farnesyltransferase, CAAX box, alpha ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:66,065,131...66,083,460
Ensembl chr16:66,065,132...66,083,460
JBrowse link
G Hook3 hook microtubule-tethering protein 3 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:65,954,293...66,058,812
Ensembl chr16:65,954,350...66,061,338
JBrowse link
G Pdgfb platelet derived growth factor subunit B ISO CTD Direct Evidence: marker/mechanism CTD PMID:23913003 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
JBrowse link
G Pdgfrb platelet derived growth factor receptor beta ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
JBrowse link
G Rnf170 ring finger protein 170 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:65,928,886...65,954,092
Ensembl chr16:65,928,895...65,954,083
JBrowse link
G Slc20a2 solute carrier family 20 member 2 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:22327515 PMID:23334463 PMID:25178512 PMID:25741868 PMID:27726124 More... NCBI chr16:69,460,850...69,551,418
Ensembl chr16:69,460,462...69,521,711
JBrowse link
G Smim19 small integral membrane protein 19 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:69,551,470...69,565,450
Ensembl chr16:69,553,916...69,567,245
JBrowse link
G Thap1 THAP domain containing 1 ISO ClinVar Annotator: match by term: Idiopathic basal ganglia calcification 1 ClinVar PMID:27726124 NCBI chr16:65,905,348...65,909,942
Ensembl chr16:65,904,230...65,909,942
JBrowse link
Idiopathic Basal Ganglia Calcification 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfrb platelet derived growth factor receptor beta ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 4 OMIM
ClinVar
PMID:9536098 PMID:15054839 PMID:17576681 PMID:23255827 PMID:23731537 More... NCBI chr18:54,500,002...54,538,843
Ensembl chr18:54,499,964...54,538,843
JBrowse link
Idiopathic Basal Ganglia Calcification 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pdgfb platelet derived growth factor subunit B ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 5 OMIM
ClinVar
PMID:21409505 PMID:23913003 PMID:25741868 NCBI chr 7:111,539,444...111,557,984
Ensembl chr 7:111,540,345...111,557,984
JBrowse link
Idiopathic Basal Ganglia Calcification 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Xpr1 xenotropic and polytropic retrovirus receptor 1 ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 6 OMIM
ClinVar
PMID:886353 PMID:25741868 PMID:25938945 NCBI chr13:67,441,205...67,585,950
Ensembl chr13:67,446,380...67,585,946
JBrowse link
Idiopathic Basal Ganglia Calcification 7 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Myorg myogenesis regulating glycosidase ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 7, autosomal recessive OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:29910000 PMID:30460687 PMID:30589467 More... NCBI chr 5:56,654,257...56,664,467
Ensembl chr 5:56,648,643...56,664,440
JBrowse link
Idiopathic Basal Ganglia Calcification 8 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jam2 junctional adhesion molecule 2 ISO ClinVar Annotator: match by term: Basal ganglia calcification, idiopathic, 8, autosomal recessive OMIM
ClinVar
PMID:26136916 PMID:31851307 PMID:32142645 NCBI chr11:23,830,820...23,880,071
Ensembl chr11:23,831,106...23,880,063
JBrowse link
immunodeficiency 38 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Acap3 ArfGAP with coiled-coil, ankyrin repeat and PH domains 3 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,500,781...166,515,477
Ensembl chr 5:166,500,781...166,515,481
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,236,092...165,237,492
Ensembl chr 5:165,236,086...165,237,629
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,749,306...166,782,212
Ensembl chr 5:166,749,310...166,786,003
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,398,359...166,400,616
Ensembl chr 5:166,397,748...166,400,953
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:164,843,656...164,866,212
Ensembl chr 5:164,844,161...164,866,212
JBrowse link
G Atad3a ATPase family, AAA domain containing 3A ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,350,302...166,370,492
Ensembl chr 5:166,350,304...166,370,482
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,584,202...166,586,338
Ensembl chr 5:166,584,202...166,586,338
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,551,628...166,556,003
Ensembl chr 5:166,551,628...166,556,003
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:164,585,285...164,599,391
Ensembl chr 5:164,585,267...164,599,355
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,416,940...166,428,997
Ensembl chr 5:166,417,508...166,436,882
JBrowse link
G Cdk11b cyclin-dependent kinase 11B ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,212,761...166,238,883
Ensembl chr 5:166,212,829...166,238,876
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:164,534,773...164,567,260
Ensembl chr 5:164,534,782...164,567,248
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,970,611...166,046,068
Ensembl chr 5:165,979,805...166,046,071
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,474,947...166,479,103
Ensembl chr 5:166,474,966...166,479,017
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,456,989...166,468,733
Ensembl chr 5:166,456,686...166,468,664
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,808,370...165,815,291
Ensembl chr 5:165,808,657...165,815,333
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,299,587...166,311,477
Ensembl chr 5:166,300,122...166,310,326
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,958,508...165,970,407
Ensembl chr 5:165,958,484...165,970,411
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,075,508...166,142,223
Ensembl chr 5:166,075,629...166,142,124
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,522,138...165,523,684
Ensembl chr 5:165,522,234...165,523,001
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,479,134...166,497,956
Ensembl chr 5:166,479,155...166,497,651
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:9683594 PMID:10862081 PMID:21031596 PMID:22859821 PMID:24033266 More... NCBI chr 5:166,784,148...166,785,435
Ensembl chr 5:166,784,148...166,785,435
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,813,482...166,819,949
Ensembl chr 5:166,814,110...166,818,925
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:164,570,539...164,580,174
Ensembl chr 5:164,570,435...164,580,174
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:164,738,272...164,839,142
Ensembl chr 5:164,738,352...164,839,139
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,243,776...166,259,944
Ensembl chr 5:166,243,776...166,259,650
JBrowse link
G Mir200a microRNA 200a ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,648,494...166,648,582 JBrowse link
G Mir200b microRNA 200b ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,649,272...166,649,366
Ensembl chr 5:166,649,272...166,649,366
JBrowse link
G Mir429 microRNA 429 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,647,459...166,647,543
Ensembl chr 5:166,647,459...166,647,543
JBrowse link
G Mmel1 membrane metallo-endopeptidase-like 1 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,431,278...165,461,716
Ensembl chr 5:165,431,343...165,461,716
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,239,643...166,242,734
Ensembl chr 5:166,239,644...166,242,433
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,646,817...165,704,892
Ensembl chr 5:165,646,991...165,704,892
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,408,962...166,413,492
Ensembl chr 5:166,408,962...166,413,492
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,448,919...166,453,645
Ensembl chr 5:166,449,154...166,453,636
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,145,708...166,176,328
Ensembl chr 5:166,145,481...166,176,322
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,820,075...166,831,951
Ensembl chr 5:166,820,161...166,831,949
JBrowse link
G Pank4 pantothenate kinase 4 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,525,340...165,542,139
Ensembl chr 5:165,525,402...165,542,135
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,627,799...165,632,965
Ensembl chr 5:165,627,799...165,632,965
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,544,209...165,613,769
Ensembl chr 5:165,544,200...165,602,356
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,805,309...166,813,339
Ensembl chr 5:166,804,837...166,813,155
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:164,879,864...165,203,986
Ensembl chr 5:164,880,587...165,203,601
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,817,786...165,930,386
Ensembl chr 5:165,819,466...165,930,367
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,462,610...165,465,213 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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,496,755...166,500,611
Ensembl chr 5:166,496,755...166,500,611
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,634,567...165,646,643
Ensembl chr 5:165,634,300...165,646,750
JBrowse link
G RGD1311517 similar to RIKEN cDNA 9430015G10 ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,701,485...166,719,939
Ensembl chr 5:166,701,676...166,719,955
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,720,408...166,726,236
Ensembl chr 5:166,724,984...166,725,751
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,831,663...166,859,805
Ensembl chr 5:166,831,663...166,850,009
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,586,581...166,606,661
Ensembl chr 5:166,586,390...166,604,521
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,713,525...165,782,134
Ensembl chr 5:165,714,093...165,782,733
JBrowse link
G Slc35e2b solute carrier family 35, member E2B ISO ClinVar Annotator: match by term: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency ClinVar PMID:9683594 PMID:10862081 PMID:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,185,166...166,211,055
Ensembl chr 5:166,185,166...166,207,021
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:164,579,327...164,584,650 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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,312,267...166,343,432
Ensembl chr 5:166,313,650...166,343,429
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,469,589...166,472,742
Ensembl chr 5:166,469,589...166,472,742
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,344,000...166,350,210
Ensembl chr 5:166,344,386...166,350,636
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,048,667...166,050,423
Ensembl chr 5:166,046,565...166,050,433
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,391,080...166,393,904
Ensembl chr 5:166,391,080...166,393,904
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,486,069...165,494,421
Ensembl chr 5:165,484,262...165,493,703
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,618,461...166,622,353
Ensembl chr 5:166,618,969...166,622,353
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,606,909...166,609,599
Ensembl chr 5:166,606,909...166,609,599
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:164,621,377...164,703,958
Ensembl chr 5:164,621,377...164,681,128
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:164,722,151...164,725,358
Ensembl chr 5:164,710,285...164,725,425
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:165,411,063...165,428,864
Ensembl chr 5:165,411,058...165,428,857
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,630,147...166,644,114
Ensembl chr 5:166,630,152...166,653,707
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,533,374...166,547,811
Ensembl chr 5:166,533,418...166,547,804
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:166,377,451...166,382,784
Ensembl chr 5:166,377,455...166,382,637
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:21031596 PMID:28492532 PMID:31674007 NCBI chr 5:164,706,112...164,721,645
Ensembl chr 5:164,706,163...164,721,643
JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vcp valosin-containing protein ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 | ClinVar Annotator: match by term: MULTISYSTEM PROTEINOPATHY 1 OMIM
ClinVar
PMID:7182974 PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 More... NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 2 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 OMIM
ClinVar
PMID:9536098 PMID:11891683 PMID:17576681 PMID:23455423 PMID:25741868 More... NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249
JBrowse link
inclusion body myopathy with early-onset Paget disease of bone with or without frontotemporal dementia 3 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 OMIM
ClinVar
PMID:20116073 PMID:23455423 PMID:25616961 PMID:25741868 NCBI chr 7:134,375,318...134,381,610
Ensembl chr 7:134,375,150...134,381,609
JBrowse link
inclusion body myopathy with Paget disease of bone and frontotemporal dementia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Egf epidermal growth factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr 2:218,219,408...218,302,370
Ensembl chr 2:218,219,415...218,302,064
JBrowse link
G Hnrnpa1 heterogeneous nuclear ribonucleoprotein A1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 7:134,375,318...134,381,610
Ensembl chr 7:134,375,150...134,381,609
JBrowse link
G Hnrnpa2b1 heterogeneous nuclear ribonucleoprotein A2/B1 ISO DNA:missense mutation:cds:p.D290V (human)
CTD Direct Evidence: marker/mechanism
CTD
RGD
PMID:23455423 RGD:10395280 NCBI chr 4:80,534,659...80,545,297
Ensembl chr 4:80,534,651...80,545,249
JBrowse link
G Tnf tumor necrosis factor ISO protein:increased expression:plasma RGD PMID:24119107 RGD:10059681 NCBI chr20:3,622,011...3,624,629
Ensembl chr20:3,622,011...3,624,629
JBrowse link
G Vcp valosin-containing protein ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Inclusion body myopathy with Paget disease of bone and frontotemporal dementia | ClinVar Annotator: match by term: Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia
CTD
ClinVar
PMID:7182974 PMID:15034582 PMID:16247064 PMID:16321991 PMID:16790606 More... NCBI chr 5:57,210,167...57,229,571
Ensembl chr 5:57,210,168...57,229,571
JBrowse link
Kufor-Rakeb syndrome term browser