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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:Tremor
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Accession:DOID:9000495 term browser browse the term
Definition:Cyclical movement of a body part that can represent either a physiologic process or a manifestation of disease. Intention or action tremor, a common manifestation of CEREBELLAR DISEASES, is aggravated by movement. In contrast, resting tremor is maximal when there is no attempt at voluntary movement, and occurs as a relatively frequent manifestation of PARKINSON DISEASE.
Synonyms:exact_synonym: Action Tremor;   Action Tremors;   Coarse Tremor;   Coarse Tremors;   Continuous Tremor;   Continuous Tremors;   Darkness Tremor;   Darkness Tremors;   Fine Tremor;   Fine Tremors;   Intention Tremor;   Intention Tremors;   Intermittent Tremor;   Intermittent Tremors;   Involuntary Quiver;   Involuntary Quivers;   Limb Tremor;   Limb Tremors;   Massive Tremor;   Massive Tremors;   Muscle Tremor;   Muscle Tremors;   Neonatal Tremor;   Neonatal Tremors;   Nerve Tremor;   Nerve Tremors;   Passive Tremor;   Passive Tremors;   Perioral Tremor;   Perioral Tremors;   Persistent Tremor;   Persistent Tremors;   Pill Rolling Tremor;   Pill Rolling Tremors;   Rest Tremor;   Rest Tremors;   Resting Tremor;   Resting Tremors;   Saturnine Tremor;   Saturnine Tremors;   Semirhythmic Tremor;   Semirhythmic Tremors;   Senile Tremor;   Senile Tremors;   Static Tremor;   Static Tremors;   Tremors
 primary_id: MESH:D014202


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Tremor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ache acetylcholinesterase (Cartwright blood group) ISO CTD Direct Evidence: therapeutic CTD PMID:27083141 NCBI chrNW_004936543:856,678...862,080
Ensembl chrNW_004936543:856,676...862,109
JBrowse link
G Adora2a adenosine A2a receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16780890 NCBI chrNW_004936619:597,970...618,564
Ensembl chrNW_004936619:608,441...616,779
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:190674 PMID:7902979 PMID:8102213 PMID:9151294 NCBI chrNW_004936504:5,985,407...5,987,453
Ensembl chrNW_004936504:5,985,960...5,987,210
JBrowse link
G Asf1a anti-silencing function 1A histone chaperone ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004936658:1,699,150...1,713,079
Ensembl chrNW_004936658:1,699,044...1,715,582
JBrowse link
G Aspa aspartoacylase ISO associated with Hcn1A354V allele RGD PMID:27026062 RGD:13464274 NCBI chrNW_004936677:219,459...232,545 JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO RGD PMID:27013529 RGD:13825260 NCBI chrNW_004936809:396,883...466,372
Ensembl chrNW_004936809:396,733...466,524
JBrowse link
G Atp7a ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22815746 NCBI chrNW_004936683:2,874,022...2,936,214
Ensembl chrNW_004936683:2,874,042...2,935,040
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Intention tremor ClinVar NCBI chrNW_004936606:2,168,104...2,867,560
Ensembl chrNW_004936606:2,168,625...2,865,758
JBrowse link
G Calhm4 calcium homeostasis modulator family member 4 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004936824:1,098,792...1,103,607
Ensembl chrNW_004936824:1,098,792...1,103,797
JBrowse link
G Calhm5 calcium homeostasis modulator family member 5 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004936824:1,056,082...1,061,368
Ensembl chrNW_004936824:1,056,098...1,062,157
JBrowse link
G Calhm6 calcium homeostasis modulator family member 6 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004936824:1,019,124...1,020,871
Ensembl chrNW_004936824:1,019,154...1,020,961
JBrowse link
G Cep85l centrosomal protein 85 like ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004936658:1,351,968...1,490,861
Ensembl chrNW_004936658:1,352,264...1,491,079
JBrowse link
G Chrm4 cholinergic receptor muscarinic 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9920179 NCBI chrNW_004936562:2,685,209...2,687,751
Ensembl chrNW_004936562:2,493,774...2,689,731
JBrowse link
G Cplx1 complexin 1 ISO RGD PMID:31875236 RGD:127285808 NCBI chrNW_004936477:22,315,827...22,338,488
Ensembl chrNW_004936477:22,316,018...22,338,475
JBrowse link
G Dcbld1 discoidin, CUB and LCCL domain containing 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004936658:547,245...606,540
Ensembl chrNW_004936658:547,074...607,637
JBrowse link
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004936824:957,783...995,465
Ensembl chrNW_004936824:957,848...995,260
JBrowse link
G Fam162b family with sequence similarity 162 member B ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004936658:7,938...13,751
Ensembl chrNW_004936658:10,040...13,799
JBrowse link
G Fam184a family with sequence similarity 184 member A ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004936658:1,762,432...1,888,603
Ensembl chrNW_004936658:1,761,885...1,888,622
JBrowse link
G Gba1 glucosylceramidase beta 1 ISO ClinVar Annotator: match by term: Resting tremor ClinVar PMID:1899336 PMID:1972019 PMID:2309702 PMID:2378352 PMID:2464926 More... NCBI chrNW_004936580:4,715,869...4,720,752
Ensembl chrNW_004936580:4,715,408...4,720,798
JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:25741868 NCBI chrNW_004936469:49,616,552...49,788,760
Ensembl chrNW_004936469:49,617,095...49,673,213
JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004936658:614,711...655,874
Ensembl chrNW_004936658:614,476...655,905
JBrowse link
G Gprc6a G protein-coupled receptor class C group 6 member A ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004936658:38,931...58,534
Ensembl chrNW_004936658:38,931...58,534
JBrowse link
G Hcn1 hyperpolarization activated cyclic nucleotide gated potassium channel 1 ISO DNA:missense mutation:cds:c.1061C>T, p.A354V(rat) RGD PMID:25970616 RGD:11060746 NCBI chrNW_004936480:17,051,902...17,416,335
Ensembl chrNW_004936480:17,051,898...17,413,657
JBrowse link
G Htr1a 5-hydroxytryptamine receptor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11070179 NCBI chrNW_004936480:5,042,531...5,047,157
Ensembl chrNW_004936480:5,043,204...5,044,472
JBrowse link
G Kpna5 karyopherin subunit alpha 5 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130
G LOC101960999 voltage-dependent P/Q-type calcium channel subunit alpha-1A ISO ClinVar Annotator: match by term: Intention tremor ClinVar PMID:28492532 NCBI chrNW_004936659:2,201,606...2,269,625
Ensembl chrNW_004936659:2,192,610...2,392,638
JBrowse link
G LOC101961588 cytochrome P450 2D17 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15570195 NCBI chrNW_004936718:153,340...157,966 JBrowse link
G LOC101972545 RWD domain-containing protein 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004936824:1,117,865...1,136,974
Ensembl chrNW_004936824:1,118,020...1,136,804
JBrowse link
G Man1a1 mannosidase alpha class 1A member 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004936658:1,981,203...2,148,349
Ensembl chrNW_004936658:1,983,787...2,150,280
JBrowse link
G Mcm9 minichromosome maintenance 9 homologous recombination repair factor ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004936658:1,657,226...1,734,150 JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:25741868 NCBI chrNW_004936903:583,942...589,160
Ensembl chrNW_004936903:583,942...589,160
JBrowse link
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004936658:695,431...718,891
Ensembl chrNW_004936658:695,609...718,746
JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004936658:1,443,626...1,453,770
Ensembl chrNW_004936658:1,443,795...1,453,839
JBrowse link
G Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta ISO RGD PMID:33479380 RGD:150519900 NCBI chrNW_004936754:842,697...963,002
Ensembl chrNW_004936754:842,343...963,024
JBrowse link
G Rel REL proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: therapeutic CTD PMID:31481676 NCBI chrNW_004936491:6,405,493...6,435,096
Ensembl chrNW_004936491:6,405,515...6,436,510
JBrowse link
G Rfx6 regulatory factor X6 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004936658:94,589...145,135
Ensembl chrNW_004936658:94,589...145,135
JBrowse link
G Ros1 ROS proto-oncogene 1, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004936658:382,025...506,818
Ensembl chrNW_004936658:382,261...506,818
JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004937068:45,105...59,540
Ensembl chrNW_004937068:45,181...57,159
JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19261867 NCBI chrNW_004936512:9,164,310...9,281,795
Ensembl chrNW_004936512:9,164,262...9,279,688
JBrowse link
G Slc35f1 solute carrier family 35 member F1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004936658:851,751...1,238,263
Ensembl chrNW_004936658:1,076,196...1,238,276
JBrowse link
G Stxbp1 syntaxin binding protein 1 ISO ClinVar Annotator: match by term: tremors ClinVar PMID:20887364 PMID:24033266 PMID:25533962 PMID:25741868 PMID:26384463 More... NCBI chrNW_004936487:15,300,758...15,367,475
Ensembl chrNW_004936487:15,300,952...15,365,713
JBrowse link
G Tbc1d24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004936694:1,556,717...1,582,019
Ensembl chrNW_004936694:1,556,244...1,569,201
JBrowse link
G Tmem67 transmembrane protein 67 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 More... NCBI chrNW_004936544:6,887,867...6,931,669
Ensembl chrNW_004936544:6,887,532...6,932,179
JBrowse link
G Trappc3l trafficking protein particle complex subunit 3L ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004936824:1,048,636...1,090,900
Ensembl chrNW_004936824:1,046,502...1,091,218
JBrowse link
G Trh thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:103733 PMID:416961 NCBI chrNW_004936602:623,542...626,337
Ensembl chrNW_004936602:623,535...626,445
JBrowse link
G Unc13a unc-13 homolog A ISO ClinVar Annotator: match by term: tremors ClinVar PMID:25741868 PMID:28192369 NCBI chrNW_004936596:3,311,358...3,370,833
Ensembl chrNW_004936596:3,312,788...3,368,916
JBrowse link
G Vgll2 vestigial like family member 2 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004936658:362,377...370,298
Ensembl chrNW_004936658:362,296...370,322
JBrowse link
G Zup1 zinc finger containing ubiquitin peptidase 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004937068:21,312...42,266
Ensembl chrNW_004937068:21,276...42,264
JBrowse link
ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Pou4f1 POU class 4 homeobox 1 ISO ClinVar Annotator: match by term: Ataxia, intention tremor, and hypotonia syndrome, childhood-onset | ClinVar Annotator: match by term: POU4F1-related condition OMIM
ClinVar
PMID:8876243 PMID:25741868 PMID:28492532 PMID:29758562 PMID:33783914 NCBI chrNW_004936511:2,857,017...2,859,705
Ensembl chrNW_004936511:2,857,331...2,859,277
JBrowse link
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slc44a1 solute carrier family 44 member 1 ISO ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline OMIM
ClinVar
PMID:25741868 PMID:28097321 PMID:31855247 NCBI chrNW_004936559:6,766,307...6,903,286
Ensembl chrNW_004936559:6,818,459...6,904,139
JBrowse link
congenital myopathy 16 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Mybpc1 myosin binding protein C1 ISO ClinVar Annotator: match by term: MYOGENIC TREMOR | ClinVar Annotator: match by term: Myopathy, congenital, with tremor OMIM
ClinVar
PMID:18414213 PMID:22610851 PMID:25741868 PMID:28492532 PMID:31025394 More... NCBI chrNW_004936492:12,373,240...12,455,371
Ensembl chrNW_004936492:12,374,708...12,455,031
JBrowse link
essential tremor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Dnajc13 DnaJ heat shock protein family (Hsp40) member C13 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:24218364 PMID:25118025 PMID:27270108 NCBI chrNW_004936529:5,768,229...5,883,841
Ensembl chrNW_004936529:5,785,538...5,883,097
JBrowse link
G Dnhd1 dynein heavy chain domain 1 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:25741868 PMID:28492532 PMID:33279834 NCBI chrNW_004936842:543,702...630,585 JBrowse link
G Drd3 dopamine receptor D3 treatment ISO ClinVar Annotator: match by term: Essential tremor, susceptibility to | ClinVar Annotator: match by term: Hereditary essential tremor RGD
ClinVar
PMID:1362221 PMID:8225313 PMID:8411064 PMID:9514583 PMID:16650084 More... RGD:13506957 NCBI chrNW_004936536:1,580,732...1,616,726
Ensembl chrNW_004936536:1,580,732...1,616,725
JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15765150 NCBI chrNW_004936515:1,806,721...1,859,227
Ensembl chrNW_004936515:1,805,239...1,859,600
JBrowse link
G Gemin5 gem nuclear organelle associated protein 5 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chrNW_004936515:7,923,113...7,971,507
Ensembl chrNW_004936515:7,922,852...7,970,925
JBrowse link
G Gpr151 G protein-coupled receptor 151 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:28492532 PMID:33279834 NCBI chrNW_004936504:8,177,239...8,179,704
Ensembl chrNW_004936504:8,177,662...8,178,921
JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18215156 NCBI chrNW_004936599:2,197,681...2,200,642
Ensembl chrNW_004936599:2,197,634...2,201,050
JBrowse link
G Hnmt histamine N-methyltransferase no_association ISO RGD PMID:18543121 PMID:19773194 RGD:5509775 RGD:5509776 NCBI chrNW_004936469:38,125,877...38,166,429
Ensembl chrNW_004936469:38,122,454...38,166,398
JBrowse link
G Kcnn2 potassium calcium-activated channel subfamily N member 2 ISO DNA:missense mutation:cds:c. 866T>A (p. I289N)(rat) RGD PMID:28917524 RGD:38508907 NCBI chrNW_004937043:133,981...269,593 JBrowse link
G Lingo1 leucine rich repeat and Ig domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19182806 NCBI chrNW_004936471:34,657,073...34,729,662
Ensembl chrNW_004936471:34,706,198...34,731,037
JBrowse link
G LOC101962469 protein FAM228B ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chrNW_004936493:7,862,286...7,888,052
Ensembl chrNW_004936493:7,866,313...7,888,087
JBrowse link
G Mapt microtubule associated protein tau no_association ISO DNA:SNP: :rs1052553 (human) RGD PMID:22911817 RGD:8158098 NCBI chrNW_004936541:2,381,411...2,479,984 JBrowse link
G Ms4a14 membrane spanning 4-domains A14 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chrNW_004936581:2,503,640...2,522,184 JBrowse link
G Myo6 myosin VI ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:12687499 PMID:18348273 PMID:23767834 PMID:25080041 PMID:25741868 More... NCBI chrNW_004936788:1,125,332...1,264,372
Ensembl chrNW_004936788:1,174,544...1,262,746
JBrowse link
G Prss48 serine protease 48 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chrNW_004936689:1,287,605...1,299,594
Ensembl chrNW_004936689:1,287,605...1,299,607
JBrowse link
G Sh3d19 SH3 domain containing 19 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chrNW_004936689:1,147,350...1,241,202
Ensembl chrNW_004936689:1,147,353...1,239,064
JBrowse link
essential tremor 1 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ankrd11 ankyrin repeat domain containing 11 ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chrNW_004936641:569,002...661,935
Ensembl chrNW_004936641:627,398...661,137
JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:25741868 NCBI chrNW_004936565:4,694,294...4,763,661
Ensembl chrNW_004936565:4,694,281...4,763,773
JBrowse link
G Drd3 dopamine receptor D3 ISO ClinVar Annotator: match by term: Tremor, hereditary essential, 1 ClinVar
OMIM
PMID:1362221 PMID:8225313 PMID:8411064 PMID:9514583 PMID:16650084 More... NCBI chrNW_004936536:1,580,732...1,616,726
Ensembl chrNW_004936536:1,580,732...1,616,725
JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:25741868 NCBI chrNW_004936469:49,616,552...49,788,760
Ensembl chrNW_004936469:49,617,095...49,673,213
JBrowse link
essential tremor 4 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: FUS-related condition | ClinVar Annotator: match by term: Tremor, hereditary essential, 4 OMIM
ClinVar
PMID:12840784 PMID:12858291 PMID:16199547 PMID:19251627 PMID:19251628 More... NCBI chrNW_004936501:13,529,732...13,541,102
Ensembl chrNW_004936501:13,529,803...13,540,764
JBrowse link
essential tremor 5 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tenm4 teneurin transmembrane protein 4 ISO ClinVar Annotator: match by term: TENM4-related condition | ClinVar Annotator: match by term: Tremor, hereditary essential, 5 OMIM
ClinVar
PMID:25741868 PMID:26188006 PMID:28158909 PMID:28492532 PMID:34426522 NCBI chrNW_004936498:7,145,510...7,868,792
Ensembl chrNW_004936498:7,145,483...7,658,860
JBrowse link
essential tremor 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn4a sodium voltage-gated channel alpha subunit 4 ISO ClinVar Annotator: match by term: Tremor, hereditary essential, 6 ClinVar PMID:28492532 PMID:34913263 NCBI chrNW_004936541:4,541,061...4,570,212
Ensembl chrNW_004936541:4,543,102...4,569,862
JBrowse link
fragile X-associated tremor/ataxia syndrome term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fmr1 Fragile X messenger ribonucleoprotein 1 ISO ClinVar Annotator: match by term: Fragile X tremor/ataxia syndrome | ClinVar Annotator: match by term: Fragile X-associated tremor/ataxia syndrome OMIM
ClinVar
PMID:25741868 NCBI chrNW_004936513:1,290,038...1,327,850
Ensembl chrNW_004936513:1,289,558...1,327,856
JBrowse link
G Sod1 superoxide dismutase 1 ISO mRNA:increased expression:prefrontal cortex, brain stem (mouse) RGD PMID:24418349 RGD:8655858 NCBI chrNW_004936500:10,345,154...10,352,873
Ensembl chrNW_004936500:10,345,154...10,352,867
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Smg9 SMG9 nonsense mediated mRNA decay factor ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies ClinVar
OMIM
PMID:35087184 NCBI chrNW_004936706:908,471...929,075
Ensembl chrNW_004936706:908,867...929,305
JBrowse link

Term paths to the root
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  disease 14638
    Pathological Conditions, Signs and Symptoms 11556
      Signs and Symptoms 9735
        Neurologic Manifestations 9423
          Dyskinesias 2070
            Tremor 75
              ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET 1
              Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline 1
              Geniospasm 0
              NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES 1
              Primary Orthostatic Tremor 0
              Tremor of Intention, Ataxia, and Lipofuscinosis 0
              congenital myopathy 16 1
              essential tremor + 22
              fragile X-associated tremor/ataxia syndrome 2
Path 2
Term Annotations click to browse term
  disease 14638
    disease of anatomical entity 14327
      nervous system disease 12611
        central nervous system disease 11273
          brain disease 10581
            movement disease 2426
              Dyskinesias 2070
                Tremor 75
                  ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET 1
                  Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline 1
                  Geniospasm 0
                  NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES 1
                  Primary Orthostatic Tremor 0
                  Tremor of Intention, Ataxia, and Lipofuscinosis 0
                  congenital myopathy 16 1
                  essential tremor + 22
                  fragile X-associated tremor/ataxia syndrome 2
paths to the root