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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 ISO CTD Direct Evidence: therapeutic CTD PMID:27083141 NCBI chr 5:137,286,516...137,292,728
Ensembl chr 5:137,285,781...137,292,728
JBrowse link
G Adora2a adenosine A2a receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16780890 NCBI chr10:75,152,711...75,170,626
Ensembl chr10:75,152,711...75,170,618
JBrowse link
G Adrb2 adrenergic receptor, beta 2 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:190674 PMID:7902979 PMID:8102213 PMID:9151294 NCBI chr18:62,310,784...62,313,052
Ensembl chr18:62,310,887...62,313,030
JBrowse link
G Asf1a anti-silencing function 1A histone chaperone ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr10:53,473,057...53,485,321
Ensembl chr10:53,472,853...53,485,321
JBrowse link
G Aspa aspartoacylase ISO associated with Hcn1A354V allele RGD PMID:27026062 RGD:13464274 NCBI chr11:73,195,813...73,217,677
Ensembl chr11:73,195,818...73,220,422
JBrowse link
G Atp2b3 ATPase, Ca++ transporting, plasma membrane 3 ISO RGD PMID:27013529 RGD:13825260 NCBI chr  X:72,546,356...72,632,267
Ensembl chr  X:72,546,692...72,614,611
JBrowse link
G Atp7a ATPase, copper transporting, alpha polypeptide ISO CTD Direct Evidence: marker/mechanism CTD PMID:22815746 NCBI chr  X:105,070,830...105,171,766
Ensembl chr  X:105,070,882...105,168,532
JBrowse link
G Atrn attractin ISO DNA:deletion:exon RGD PMID:12379762 RGD:1299186 NCBI chr 2:130,734,363...130,872,249
Ensembl chr 2:130,748,415...130,872,253
JBrowse link
G Cacna1a calcium channel, voltage-dependent, P/Q type, alpha 1A subunit ISO ClinVar Annotator: match by term: Intention tremor ClinVar PMID:28492532 NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875
JBrowse link
G Cacna1c calcium channel, voltage-dependent, L type, alpha 1C subunit ISO ClinVar Annotator: match by term: Intention tremor ClinVar NCBI chr 6:118,564,201...119,174,345
Ensembl chr 6:118,564,201...119,173,851
JBrowse link
G Calhm4 calcium homeostasis modulator family member 4 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr10:33,914,780...33,920,309
Ensembl chr10:33,914,780...33,920,306
JBrowse link
G Calhm5 calcium homeostasis modulator family member 5 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr10:33,967,348...33,972,515
Ensembl chr10:33,963,811...33,972,515
JBrowse link
G Calhm6 calcium homeostasis modulator family member 6 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr10:34,002,063...34,003,968
Ensembl chr10:34,002,063...34,003,980
JBrowse link
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr10:53,149,537...53,256,765
Ensembl chr10:53,149,539...53,256,043
JBrowse link
G Chrm4 cholinergic receptor, muscarinic 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9920179 NCBI chr 2:91,752,531...91,760,180
Ensembl chr 2:91,757,594...91,759,033
JBrowse link
G Cplx1 complexin 1 ISO RGD PMID:31875236 RGD:127285808 NCBI chr 5:108,666,420...108,697,893
Ensembl chr 5:108,666,420...108,697,890
JBrowse link
G Cyp2d22 cytochrome P450, family 2, subfamily d, polypeptide 22 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15570195 NCBI chr15:82,254,728...82,264,461
Ensembl chr15:82,254,728...82,264,461
JBrowse link
G Dcbld1 discoidin, CUB and LCCL domain containing 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr10:52,109,674...52,197,474
Ensembl chr10:52,109,715...52,197,474
JBrowse link
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr10:34,027,385...34,084,267
Ensembl chr10:34,027,389...34,083,711
JBrowse link
G Fam162b family with sequence similarity 162, member B ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr10:51,461,510...51,466,686
Ensembl chr10:51,461,512...51,466,613
JBrowse link
G Fam184a family with sequence similarity 184, member A ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr10:53,509,131...53,627,368
Ensembl chr10:53,509,241...53,627,219
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 chr 3:89,110,235...89,119,944
Ensembl chr 3:89,110,235...89,116,273
JBrowse link
G Gli2 GLI-Kruppel family member GLI2 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:25741868 NCBI chr 1:118,761,791...118,987,578
Ensembl chr 1:118,761,862...118,981,349
JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr10:52,213,120...52,258,220
Ensembl chr10:52,211,946...52,258,220
JBrowse link
G Gprc6a G protein-coupled receptor, family C, group 6, member A ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr10:51,490,919...51,507,554
Ensembl chr10:51,490,919...51,507,557
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 chr13:117,738,856...118,117,564
Ensembl chr13:117,738,856...118,123,954
JBrowse link
G Htr1a 5-hydroxytryptamine (serotonin) receptor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11070179 NCBI chr13:105,580,040...105,584,630
Ensembl chr13:105,580,147...105,584,630
JBrowse link
G Man1a mannosidase 1, alpha ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr10:53,780,881...53,952,712
Ensembl chr10:53,780,881...53,952,705
JBrowse link
G Mcm9 minichromosome maintenance 9 homologous recombination repair factor ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr10:53,412,411...53,507,251
Ensembl chr10:53,412,411...53,506,535
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:25741868 NCBI chr 1:170,978,282...170,988,699
Ensembl chr 1:170,978,280...170,988,699
JBrowse link
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr10:52,293,643...52,316,288
Ensembl chr10:52,293,643...52,316,279
JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr10:53,213,782...53,222,095
Ensembl chr10:53,213,763...53,222,083
JBrowse link
G Prkar1b protein kinase, cAMP dependent regulatory, type I beta ISO RGD PMID:33479380 RGD:150519900 NCBI chr 5:139,003,059...139,136,458
Ensembl chr 5:139,003,061...139,135,756
JBrowse link
G Rel reticuloendotheliosis oncogene ISO CTD Direct Evidence: therapeutic CTD PMID:31481676 NCBI chr11:23,686,847...23,720,969
Ensembl chr11:23,686,847...23,720,970
JBrowse link
G Rfx6 regulatory factor X, 6 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr10:51,553,856...51,606,525
Ensembl chr10:51,553,852...51,606,528
JBrowse link
G Ros1 Ros1 proto-oncogene ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr10:51,920,959...52,071,494
Ensembl chr10:51,921,817...52,071,340
JBrowse link
G Rsph4a radial spoke head 4 homolog A (Chlamydomonas) ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr10:33,781,107...33,792,017
Ensembl chr10:33,781,107...33,792,017
JBrowse link
G Rwdd1 RWD domain containing 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr10:33,872,551...33,895,612
Ensembl chr10:33,872,551...33,895,620
JBrowse link
G Scn8a sodium channel, voltage-gated, type VIII, alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:19261867 NCBI chr15:100,766,600...100,943,819
Ensembl chr15:100,767,739...100,943,819
JBrowse link
G Slc35f1 solute carrier family 35, member F1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr10:52,566,597...52,987,718
Ensembl chr10:52,566,629...52,987,718
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 chr 2:32,677,619...32,737,249
Ensembl chr 2:32,677,614...32,737,257
JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536
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 chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,363...12,090,020
JBrowse link
G Trappc3l trafficking protein particle complex 3 like ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr10:33,913,593...33,985,811
Ensembl chr10:33,913,593...33,985,811
JBrowse link
G Trh thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:103733 PMID:416961 NCBI chr 6:92,219,042...92,221,631
Ensembl chr 6:92,219,042...92,221,631
JBrowse link
G Unc13a unc-13 homolog A ISO ClinVar Annotator: match by term: tremors ClinVar PMID:25741868 PMID:28192369 NCBI chr 8:72,079,356...72,124,418
Ensembl chr 8:72,077,061...72,124,401
JBrowse link
G Vgll2 vestigial like family member 2 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr10:51,898,598...51,904,567
Ensembl chr10:51,898,598...51,904,567
JBrowse link
G Zup1 zinc finger containing ubiquitin peptidase 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr10:33,795,138...33,827,316
Ensembl chr10:33,795,138...33,827,265
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 domain, class 4, transcription factor 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 chr14:104,699,111...104,705,554
Ensembl chr14:104,699,112...104,705,435
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 chr 4:53,440,387...53,622,478
Ensembl chr 4:53,440,413...53,622,478
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 C, slow-type 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 chr10:88,354,141...88,441,051
Ensembl chr10:88,354,141...88,441,014
JBrowse link
essential tremor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ccdc183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 2:25,498,641...25,507,690
Ensembl chr 2:25,498,647...25,507,690
JBrowse link
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 chr 9:104,028,796...104,140,807
Ensembl chr 9:104,028,481...104,140,129
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 chr 7:105,299,983...105,371,007
Ensembl chr 7:105,300,034...105,371,006
JBrowse link
G Drd3 dopamine receptor D3 treatment ISO DNA:polymorphism:CDS:p.S9G (human)
ClinVar Annotator: match by term: Essential tremor, susceptibility to | ClinVar Annotator: match by term: Hereditary essential tremor
ClinVar
RGD
PMID:1362221 PMID:8225313 PMID:8411064 PMID:9514583 PMID:16650084 More... RGD:1626359, RGD:13506957 NCBI chr16:43,574,285...43,646,353
Ensembl chr16:43,574,389...43,643,295
JBrowse link
G Fam228b family with sequence similarity 228, member B ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr12:4,789,888...4,819,259
Ensembl chr12:4,789,888...4,819,267
JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15765150 NCBI chr11:42,021,766...42,073,893
Ensembl chr11:42,021,766...42,073,757
JBrowse link
G Gemin5 gem nuclear organelle associated protein 5 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr11:58,010,827...58,059,378
Ensembl chr11:58,010,828...58,059,365
JBrowse link
G Gpr151 G protein-coupled receptor 151 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:28492532 PMID:33279834 NCBI chr18:42,710,946...42,712,717
Ensembl chr18:42,710,946...42,712,717
JBrowse link
G Gstp1 glutathione S-transferase, pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18215156 NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
JBrowse link
G Hnmt histamine N-methyltransferase no_association ISO RGD PMID:19773194 PMID:18543121 RGD:5509775, RGD:5509776 NCBI chr 2:23,892,923...23,939,756
Ensembl chr 2:23,892,922...23,939,406
JBrowse link
G Kcnn2 potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2 ISO DNA:missense mutation:cds:c. 866T>A (p. I289N)(rat) RGD PMID:28917524 RGD:38508907 NCBI chr18:45,401,754...45,818,954
Ensembl chr18:45,401,927...45,818,950
JBrowse link
G Lingo1 leucine rich repeat and Ig domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19182806 NCBI chr 9:56,525,743...56,704,355
Ensembl chr 9:56,525,759...56,703,752
JBrowse link
G Mapt microtubule-associated protein tau no_association ISO DNA:SNP: :rs1052553 (human) RGD PMID:22911817 RGD:8158098 NCBI chr11:104,120,235...104,222,916
Ensembl chr11:104,122,216...104,222,916
JBrowse link
G Ms4a14 membrane-spanning 4-domains, subfamily A, member 14 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr19:11,278,613...11,293,239
Ensembl chr19:11,278,613...11,291,818
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 chr 9:80,072,262...80,219,011
Ensembl chr 9:80,072,313...80,219,011
JBrowse link
G Or5k16 olfactory receptor family 5 subfamily K member 16 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr16:58,736,049...58,738,849
Ensembl chr16:58,734,648...58,749,755
JBrowse link
G Or5k3 olfactory receptor family 5 subfamily K member 3 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr16:58,969,215...58,970,141
Ensembl chr16:58,967,409...58,971,140
JBrowse link
G Or6c1b olfactory receptor family 6 subfamily C member 1B ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr10:129,272,683...129,273,621
Ensembl chr10:129,263,175...129,274,949
JBrowse link
G Prss48 serine protease 48 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 3:85,900,919...85,909,838
Ensembl chr 3:85,901,117...85,909,798
JBrowse link
G Sh3d19 SH3 domain protein D19 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 3:85,878,112...86,037,833
Ensembl chr 3:85,878,416...86,037,833
JBrowse link
G Tgm4 transglutaminase 4 (prostate) ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 9:122,863,806...122,896,623
Ensembl chr 9:122,863,791...122,896,626
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 11 ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:25741868 PMID:26467025 PMID:28492532 NCBI chr 8:123,610,060...123,769,023
Ensembl chr 8:123,610,561...123,769,016
JBrowse link
G Atp7b ATPase, copper transporting, beta polypeptide ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:25741868 NCBI chr 8:22,482,799...22,550,347
Ensembl chr 8:22,482,801...22,550,321
JBrowse link
G Drd3 dopamine receptor D3 susceptibility ISO ClinVar Annotator: match by term: Tremor, hereditary essential, 1
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
PMID:1362221 PMID:8225313 PMID:8411064 PMID:9514583 PMID:16650084 More... NCBI chr16:43,574,285...43,646,353
Ensembl chr16:43,574,389...43,643,295
JBrowse link
G Gli2 GLI-Kruppel family member GLI2 ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:25741868 NCBI chr 1:118,761,791...118,987,578
Ensembl chr 1:118,761,862...118,981,349
JBrowse link
essential tremor 4 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Fus fused in sarcoma 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 chr 7:127,565,276...127,581,204
Ensembl chr 7:127,566,629...127,584,873
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 chr 7:95,550,262...96,560,300
Ensembl chr 7:95,820,453...96,560,300
JBrowse link
essential tremor 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Scn4a sodium channel, voltage-gated, type IV, alpha ISO ClinVar Annotator: match by term: Tremor, hereditary essential, 6 ClinVar PMID:28492532 PMID:34913263 NCBI chr11:106,208,374...106,256,385
Ensembl chr11:106,209,418...106,244,114
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
IAGP
ClinVar Annotator: match by term: Fragile X tremor/ataxia syndrome | ClinVar Annotator: match by term: Fragile X-associated tremor/ataxia syndrome
OMIM:300623
human gene in a mouse model
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
MouseDO
CTD
RGD
PMID:25741868 PMID:27385396 PMID:15876460 RGD:12050151 NCBI chr  X:67,722,144...67,761,569
Ensembl chr  X:67,722,147...67,761,569
JBrowse link
G Sod1 superoxide dismutase 1, soluble IEP mRNA:increased expression:prefrontal cortex, brain stem (mouse) RGD PMID:24418349 RGD:8655858 NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217
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 chr 7:24,099,106...24,122,197
Ensembl chr 7:24,099,044...24,122,203
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16269
    Pathological Conditions, Signs and Symptoms 12654
      Signs and Symptoms 10542
        Neurologic Manifestations 10199
          Dyskinesias 2219
            Tremor 80
              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 + 27
              fragile X-associated tremor/ataxia syndrome 2
Path 2
Term Annotations click to browse term
  disease 16269
    disease of anatomical entity 15860
      nervous system disease 13794
        central nervous system disease 12313
          brain disease 11555
            movement disease 2613
              Dyskinesias 2219
                Tremor 80
                  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 + 27
                  fragile X-associated tremor/ataxia syndrome 2
paths to the root