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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


show annotations for term's descendants           Sort by:
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 chr12:19,406,133...19,413,713
Ensembl chr12:19,407,360...19,413,651 		JBrowse link
G Adora2a adenosine A2a receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16780890 NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386 		JBrowse link
G Adrb2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:190674 PMID:7902979 PMID:8102213 PMID:9151294 NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512 		JBrowse link
G Asf1a anti-silencing function 1A histone chaperone ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr20:32,893,962...32,908,808
Ensembl chr20:32,893,573...32,908,808 		JBrowse link
G Aspa aspartoacylase IMP associated with Hcn1A354V allele RGD PMID:27026062 RGD:13464274 NCBI chr10:57,891,704...57,945,267
Ensembl chr10:57,892,104...57,945,272 		JBrowse link
G Aspaem34Kyo aspartoacylase;TALEN induced mutant 34,Kyo IMP associated with Hcn1A354V allele RGD PMID:27026062 RGD:13464274
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 IAGP RGD PMID:27013529 RGD:13825260 NCBI chr  X:151,216,483...151,289,069
Ensembl chr  X:151,216,507...151,286,775 		JBrowse link
G Atp7a ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22815746 NCBI chr  X:71,094,144...71,201,550
Ensembl chr  X:71,094,202...71,198,354 		JBrowse link
G Atrn attractin IAGP DNA:deletion:exon RGD PMID:12379762 RGD:1299186 NCBI chr 3:118,110,320...118,244,326
Ensembl chr 3:118,110,229...118,244,322 		JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Intention tremor ClinVar PMID:28492532 NCBI chr19:23,520,741...23,819,971
Ensembl chr19:23,520,741...23,823,225 		JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Intention tremor ClinVar NCBI chr 4:151,764,138...152,379,454
Ensembl chr 4:151,764,138...152,379,648 		JBrowse link
G Calhm4 calcium homeostasis modulator family member 4 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr20:25,990,164...25,993,173
Ensembl chr20:25,990,462...25,993,173 		JBrowse link
G Calhm5 calcium homeostasis modulator family member 5 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr20:26,066,270...26,072,348
Ensembl chr20:26,066,242...26,072,272 		JBrowse link
G Calhm6 calcium homeostasis modulator family member 6 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr20:26,095,591...26,097,336
Ensembl chr20:26,095,592...26,097,278 		JBrowse link
G Cep85l centrosomal protein 85-like ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr20:32,568,417...32,739,449
Ensembl chr20:32,572,741...32,739,516 		JBrowse link
G Chrm4 cholinergic receptor, muscarinic 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9920179 NCBI chr 3:77,893,425...77,901,166
Ensembl chr 3:77,893,425...77,901,159 		JBrowse link
G Cplx1 complexin 1 IMP RGD PMID:31875236 RGD:127285808 NCBI chr14:1,184,677...1,216,392 JBrowse link
G Cyp2d4 cytochrome P450, family 2, subfamily d, polypeptide 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15570195 NCBI chr 7:113,882,584...113,891,754
Ensembl chr 7:113,881,618...113,891,759 		JBrowse link
G Dcbld1 discoidin, CUB and LCCL domain containing 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr20:31,618,556...31,711,697
Ensembl chr20:31,618,542...31,711,692 		JBrowse link
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr20:26,118,194...26,196,889
Ensembl chr20:26,118,196...26,196,992 		JBrowse link
G Fam184a family with sequence similarity 184, member A ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr20:32,934,424...33,056,626
Ensembl chr20:32,934,636...33,056,652 		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 2:174,609,437...174,615,457
Ensembl chr 2:174,609,403...174,618,263 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:25741868 NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr20:31,727,617...31,776,904
Ensembl chr20:31,727,620...31,776,903 		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 chr20:30,922,106...30,943,412
Ensembl chr20:30,922,106...30,943,412 		JBrowse link
G Hcn1 hyperpolarization-activated cyclic nucleotide-gated potassium channel 1 IAGP DNA:missense mutation:cds:c.1061C>T, p.A354V(rat) RGD PMID:25970616 RGD:11060746 NCBI chr 2:49,495,771...49,899,983
Ensembl chr 2:49,495,771...49,899,774 		JBrowse link
G Hcn1A354V hyperpolarization-activated cyclic nucleotide-gated potassium channel 1; A354V mutant IAGP RGD PMID:25970616 RGD:11060746
G Htr1a 5-hydroxytryptamine receptor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11070179 NCBI chr 2:36,693,462...36,698,026
Ensembl chr 2:36,694,174...36,695,442 		JBrowse link
G Kpna5 karyopherin subunit alpha 5 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr20:30,822,925...30,888,080
Ensembl chr20:30,822,935...30,888,078 		JBrowse link
G Man1a1 mannosidase, alpha, class 1A, member 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr20:33,202,509...33,385,747
Ensembl chr20:33,202,517...33,385,824 		JBrowse link
G Mcm9 minichromosome maintenance 9 homologous recombination repair factor ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr20:32,818,219...32,929,577
Ensembl chr20:32,844,951...32,929,600 		JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:25741868 NCBI chr13:83,570,811...83,576,680
Ensembl chr13:83,570,811...83,576,679 		JBrowse link
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr20:31,811,817...31,838,562
Ensembl chr20:31,811,817...31,838,561 		JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr20:32,629,537...32,639,559 JBrowse link
G Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta IMP RGD PMID:33479380 RGD:150519900 NCBI chr12:15,492,233...15,624,942
Ensembl chr12:15,511,801...15,624,942 		JBrowse link
G Prkar1bem2Tua protein kinase cAMP-dependent type I regulatory subunit beta; CRISPR/Cas9 induced mutant 2, Tua IMP RGD PMID:33479380 RGD:150519900
G Rel REL proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: therapeutic CTD PMID:31481676 NCBI chr14:97,690,105...97,721,194
Ensembl chr14:97,695,161...97,720,892 		JBrowse link
G Rfx6 regulatory factor X, 6 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr20:31,019,784...31,073,266
Ensembl chr20:31,019,829...31,073,147 		JBrowse link
G Ros1 ROS proto-oncogene 1 , receptor tyrosine kinase ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr20:31,432,636...31,583,998
Ensembl chr20:31,432,637...31,583,865 		JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr20:30,764,409...30,780,574
Ensembl chr20:30,764,409...30,780,574 		JBrowse link
G Rwdd1 RWD domain containing 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr20:25,949,723...25,967,147
Ensembl chr20:25,941,966...25,967,193 		JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19261867 NCBI chr 7:131,982,152...132,156,075
Ensembl chr 7:131,982,480...132,151,292 		JBrowse link
G Slc35f1 solute carrier family 35, member F1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr20:32,030,350...32,418,762
Ensembl chr20:32,030,368...32,418,611 		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 3:16,076,725...16,138,431
Ensembl chr 3:16,076,391...16,138,369 		JBrowse link
G Tbc1d24 TBC1 domain family, member 24 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr10:13,205,819...13,236,013
Ensembl chr10:13,209,895...13,236,050 		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 5:25,536,458...25,589,378
Ensembl chr 5:25,536,458...25,589,334 		JBrowse link
G Trappc3l trafficking protein particle complex subunit 3L ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr20:25,992,835...26,084,938
Ensembl chr20:25,967,502...26,078,989 		JBrowse link
G Trh thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:103733 PMID:416961 NCBI chr 4:124,742,111...124,777,094
Ensembl chr 4:124,742,111...124,744,637 		JBrowse link
G Unc13a unc-13 homolog A ISO ClinVar Annotator: match by term: tremors ClinVar PMID:25741868 PMID:28192369 NCBI chr16:18,333,910...18,381,813
Ensembl chr16:18,336,229...18,381,872 		JBrowse link
G Vgll2 vestigial-like family member 2 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr20:31,409,529...31,415,408
Ensembl chr20:31,409,552...31,415,408 		JBrowse link
G Zup1 zinc finger containing ubiquitin peptidase 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr20:30,785,226...30,815,377
Ensembl chr20:30,785,227...30,815,306 		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 chr15:81,253,714...81,260,057
Ensembl chr15:81,257,781...81,259,728 		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 5:68,061,941...68,241,912
Ensembl chr 5:68,063,618...68,241,909 		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 chr 7:22,930,350...23,015,981
Ensembl chr 7:22,930,350...23,015,957 		JBrowse link
essential tremor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspaem34Kyo aspartoacylase;TALEN induced mutant 34,Kyo IGI RGD PMID:32507787 RGD:150429620
G Ccdc183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 3:8,428,784...8,438,948
Ensembl chr 3:8,428,787...8,437,194 		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 8:104,767,785...104,877,317
Ensembl chr 8:104,767,788...104,877,317 		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 1:159,990,785...160,077,990
Ensembl chr 1:159,990,438...160,074,858 		JBrowse link
G Drd3 dopamine receptor D3 treatment ISO
IDA		 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 chr11:56,879,689...56,931,901
Ensembl chr11:56,879,689...56,940,596 		JBrowse link
G Fam228b family with sequence similarity 228, member B ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 6:27,754,505...27,786,578
Ensembl chr 6:27,754,506...27,786,537 		JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15765150 NCBI chr10:26,595,151...26,650,611
Ensembl chr10:26,595,160...26,650,864 		JBrowse link
G Gemin5 gem (nuclear organelle) associated protein 5 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr10:42,295,729...42,342,902
Ensembl chr10:42,297,515...42,342,892 		JBrowse link
G Gpr151 G protein-coupled receptor 151 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:28492532 PMID:33279834 NCBI chr18:34,568,907...34,570,301
Ensembl chr18:34,568,907...34,570,301 		JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18215156 NCBI chr 1:201,337,762...201,340,230
Ensembl chr 1:201,321,672...201,340,226 		JBrowse link
G Hcn1em1Kyo hyperpolarization-activated cyclic nucleotide-gated potassium channel 1; TALEN induced mutant 1, Kyo IGI RGD PMID:32507787 RGD:150429620
G Hnmt histamine N-methyltransferase no_association ISO RGD PMID:19773194 PMID:18543121 RGD:5509775, RGD:5509776 NCBI chr 3:6,591,804...6,623,821
Ensembl chr 3:6,591,463...6,624,012 		JBrowse link
G Kcnn2 potassium calcium-activated channel subfamily N member 2 IMP DNA:missense mutation:cds:c. 866T>A (p. I289N)(rat) RGD PMID:28917524 RGD:38508907 NCBI chr18:37,817,966...38,258,347
Ensembl chr18:37,817,957...38,258,347 		JBrowse link
G Kcnn2Trdk potassium calcium-activated channel subfamily N member 2; Trdk mutant IMP DNA:missense mutation:cds:c. 866T>A (p. I289N)(rat) RGD PMID:28917524 RGD:38508907
G Lingo1 leucine rich repeat and Ig domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19182806 NCBI chr 8:57,011,272...57,193,496
Ensembl chr 8:57,010,007...57,196,544 		JBrowse link
G Mapt microtubule-associated protein tau no_association ISO DNA:SNP: :rs1052553 (human) RGD PMID:22911817 RGD:8158098 NCBI chr10:89,138,644...89,236,137
Ensembl chr10:89,138,627...89,236,129 		JBrowse link
G Ms4a14 membrane spanning 4-domains A14 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 1:207,949,423...207,964,937
Ensembl chr 1:207,949,426...207,964,937 		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 8:81,087,157...81,242,022
Ensembl chr 8:81,087,139...81,239,292 		JBrowse link
G Or5k17 olfactory receptor family 5 subfamily K member 17 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr11:41,588,795...41,589,748
Ensembl chr11:41,584,852...41,590,142 		JBrowse link
G Or5k3 olfactory receptor family 5 subfamily K member 3 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr11:41,259,026...41,259,952
Ensembl chr11:41,257,865...41,262,045 		JBrowse link
G Or6c1h olfactory receptor family 6 subfamily C member 1H ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 7:2,099,351...2,100,301
Ensembl chr 7:2,092,631...2,101,801 		JBrowse link
G Prss48 serine protease 48 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 2:171,358,946...171,387,051
Ensembl chr 2:171,377,970...171,387,020 		JBrowse link
G Sh3d19 SH3 domain containing 19 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 2:171,356,244...171,516,042
Ensembl chr 2:171,356,251...171,515,561 		JBrowse link
G Tgm4 transglutaminase 4 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 8:122,689,429...122,726,463
Ensembl chr 8:122,689,429...122,726,463 		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 chr19:50,940,284...51,098,962
Ensembl chr19:50,940,299...51,098,962 		JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:25741868 NCBI chr16:69,952,286...70,024,404
Ensembl chr16:69,951,778...70,023,636 		JBrowse link
G Drd3 dopamine receptor D3 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 chr11:56,879,689...56,931,901
Ensembl chr11:56,879,689...56,940,596 		JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:25741868 NCBI chr13:29,946,882...30,163,589
Ensembl chr13:29,946,809...30,163,574 		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 chr 1:182,576,479...182,590,417
Ensembl chr 1:182,576,545...182,590,414 		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 1:149,895,097...151,263,315
Ensembl chr 1:150,780,381...151,259,144 		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 chr10:91,246,936...91,296,670
Ensembl chr10:91,246,936...91,296,545 		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
ISS		 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:147,240,239...147,278,057
Ensembl chr  X:147,240,301...147,278,050 		JBrowse link
G Sod1 superoxide dismutase 1 ISO mRNA:increased expression:prefrontal cortex, brain stem (mouse) RGD PMID:24418349 RGD:8655858 NCBI chr11:29,456,673...29,462,249
Ensembl chr11:29,456,558...29,462,249 		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 1:79,988,540...80,011,262
Ensembl chr 1:79,988,612...80,011,254 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19134
    Pathological Conditions, Signs and Symptoms 13622
      Signs and Symptoms 11210
        Neurologic Manifestations 10445
          Dyskinesias 2234
            Tremor 94
              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 + 32
              fragile X-associated tremor/ataxia syndrome 2
Path 2
Term Annotations click to browse term
  disease 19134
    disease of anatomical entity 18447
      nervous system disease 14355
        central nervous system disease 12628
          brain disease 11845
            movement disease 2633
              Dyskinesias 2234
                Tremor 94
                  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 + 32
                  fragile X-associated tremor/ataxia syndrome 2
paths to the root