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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 6:8,874,747...8,879,926
Ensembl chr 6:8,873,584...8,879,702
JBrowse link
G ADORA2A adenosine A2a receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16780890 NCBI chr26:28,141,076...28,150,600
Ensembl chr26:28,141,076...28,150,598
JBrowse link
G ADRB2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:190674 PMID:7902979 PMID:8102213 PMID:9151294 NCBI chr 4:60,048,502...60,050,447
Ensembl chr 4:59,941,517...60,050,298
JBrowse link
G ASF1A anti-silencing function 1A histone chaperone ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:58,821,324...58,834,935
Ensembl chr 1:58,821,521...58,946,475
JBrowse link
G ASPA aspartoacylase ISO associated with Hcn1A354V allele RGD PMID:27026062 RGD:13464274 NCBI chr 9:47,338,435...47,361,974
Ensembl chr 9:47,343,120...47,360,914
JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO RGD PMID:27013529 RGD:13825260 NCBI chr  X:121,355,217...121,405,245
Ensembl chr  X:121,361,239...121,403,609
JBrowse link
G ATP7A ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22815746 NCBI chr  X:60,203,336...60,356,525
Ensembl chr  X:60,203,270...60,352,869
JBrowse link
G ATRN attractin ISO DNA:deletion:exon RGD PMID:12379762 RGD:1299186 NCBI chr24:17,698,238...17,859,810
Ensembl chr24:17,702,282...17,859,737
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Intention tremor ClinVar PMID:28492532 NCBI chr20:48,747,087...49,036,627
Ensembl chr20:48,821,025...49,036,032
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Intention tremor ClinVar NCBI chr27:44,007,363...44,748,251
Ensembl chr27:44,008,020...44,746,429
JBrowse link
G CALHM4 calcium homeostasis modulator family member 4 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:56,923,115...56,978,067
Ensembl chr 1:56,973,036...56,978,049
JBrowse link
G CALHM5 calcium homeostasis modulator family member 5 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:56,928,836...56,934,196
Ensembl chr 1:56,928,864...56,933,455
JBrowse link
G CALHM6 calcium homeostasis modulator family member 6 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:56,894,565...56,896,665
Ensembl chr 1:56,894,631...56,896,481
JBrowse link
G CEP85L centrosomal protein 85 like ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:58,494,552...58,643,105
Ensembl chr 1:58,494,560...58,691,054
JBrowse link
G CHRM4 cholinergic receptor muscarinic 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9920179 NCBI chr18:43,077,115...43,084,298
Ensembl chr18:43,082,404...43,083,840
JBrowse link
G CPLX1 complexin 1 ISO RGD PMID:31875236 RGD:127285808 NCBI chr 3:91,635,953...91,658,084
Ensembl chr 3:91,638,515...91,656,737
JBrowse link
G CYP2D15 cytochrome P450 family 2 subfamily D member 15 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15570195 NCBI chr10:23,255,259...23,259,380
Ensembl chr10:23,255,249...23,259,298
JBrowse link
G DCBLD1 discoidin, CUB and LCCL domain containing 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:57,733,681...57,809,624
Ensembl chr 1:57,716,008...57,799,929
Ensembl chr 1:57,716,008...57,799,929
JBrowse link
G DSE dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:56,787,809...56,868,037
Ensembl chr 1:56,787,256...56,867,716
JBrowse link
G FAM162B family with sequence similarity 162 member B ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:57,159,367...57,169,533
Ensembl chr 1:57,162,197...57,169,557
JBrowse link
G FAM184A family with sequence similarity 184 member A ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:58,904,923...59,011,925
Ensembl chr 1:58,904,921...59,012,162
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 7:42,317,704...42,322,285
Ensembl chr 7:42,317,862...42,322,864
JBrowse link
G GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:25741868 NCBI chr19:29,128,401...29,383,324
Ensembl chr19:29,130,227...29,383,658
JBrowse link
G GOPC golgi associated PDZ and coiled-coil motif containing ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:57,790,118...57,829,022
Ensembl chr 1:57,792,647...57,828,820
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 chr 1:57,191,210...57,212,008
Ensembl chr 1:57,191,325...57,212,027
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 chr 4:64,777,069...65,162,603
Ensembl chr 4:64,775,577...65,160,444
JBrowse link
G HTR1A 5-hydroxytryptamine receptor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11070179 NCBI chr 2:50,005,277...50,006,548
Ensembl chr 2:50,002,740...50,006,548
JBrowse link
G KPNA5 karyopherin subunit alpha 5 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:57,112,204...57,154,865
Ensembl chr 1:57,112,224...57,151,583
JBrowse link
G MAN1A1 mannosidase alpha class 1A member 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:59,106,834...59,274,936
Ensembl chr 1:59,109,366...59,275,399
JBrowse link
G MCM9 minichromosome maintenance 9 homologous recombination repair factor ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:58,746,637...58,862,550
Ensembl chr 1:58,767,159...58,859,282
JBrowse link
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:25741868 NCBI chr38:21,205,339...21,210,439
Ensembl chr38:21,205,107...21,210,451
JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:57,866,760...57,895,505
Ensembl chr 1:57,866,879...57,893,077
JBrowse link
G PLN phospholamban ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:58,579,095...58,590,541
Ensembl chr 1:58,579,145...58,590,535
JBrowse link
G PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta ISO RGD PMID:33479380 RGD:150519900 NCBI chr 6:16,135,406...16,248,567
Ensembl chr 6:16,135,715...16,247,465
JBrowse link
G REL REL proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: therapeutic CTD PMID:31481676 NCBI chr10:60,990,264...61,030,162
Ensembl chr10:60,990,197...61,023,663
JBrowse link
G RFX6 regulatory factor X6 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:57,242,563...57,297,300
Ensembl chr 1:57,241,927...57,296,546
JBrowse link
G ROS1 ROS proto-oncogene 1, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:57,555,278...57,677,541
Ensembl chr 1:57,555,989...57,677,761
JBrowse link
G RSPH4A radial spoke head component 4A ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:57,063,752...57,079,289
Ensembl chr 1:57,064,624...57,077,537
JBrowse link
G RWDD1 RWD domain containing 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:56,986,809...57,008,720
Ensembl chr 1:56,987,202...57,007,037
JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19261867 NCBI chr27:3,174,257...3,348,349
Ensembl chr27:3,176,013...3,296,482
JBrowse link
G SLC35F1 solute carrier family 35 member F1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:58,010,752...58,397,987
Ensembl chr 1:58,010,752...58,397,987
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 9:55,690,939...55,768,008
Ensembl chr 9:55,678,264...55,727,680
JBrowse link
G TBC1D24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chr 6:38,531,547...38,557,472 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 chr29:38,655,531...38,715,774
Ensembl chr29:38,654,733...38,720,559
JBrowse link
G TRAPPC3L trafficking protein particle complex subunit 3L ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:56,922,018...56,986,818
Ensembl chr 1:56,924,057...56,958,307
JBrowse link
G TRH thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:103733 PMID:416961 NCBI chr20:5,219,495...5,222,914
Ensembl chr20:5,219,594...5,222,866
JBrowse link
G UNC13A unc-13 homolog A ISO ClinVar Annotator: match by term: tremors ClinVar PMID:25741868 PMID:28192369 NCBI chr20:45,179,275...45,237,544
Ensembl chr20:45,188,750...45,238,115
JBrowse link
G VGLL2 vestigial like family member 2 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:57,529,901...57,537,893
Ensembl chr 1:57,529,928...57,574,871
JBrowse link
G ZUP1 zinc finger containing ubiquitin peptidase 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:57,076,730...57,108,527
Ensembl chr 1:57,067,005...57,106,837
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 chr22:31,992,657...31,997,066 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 chr11:61,120,858...61,313,250
Ensembl chr11:61,120,176...61,312,590
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 chr15:40,504,974...40,590,441
Ensembl chr15:40,504,160...40,613,978
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 9:48,768,012...48,775,191 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 chr23:29,389,120...29,506,339
Ensembl chr23:29,389,979...29,506,343
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 chr21:29,806,731...29,886,637 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 chr33:18,369,362...18,414,465
Ensembl chr33:18,372,865...18,412,277
JBrowse link
G FAM228B family with sequence similarity 228, member B ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr17:18,579,700...18,615,602 JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15765150 NCBI chr 4:49,006,981...49,065,205
Ensembl chr 4:49,009,495...49,062,581
JBrowse link
G GEMIN5 gem nuclear organelle associated protein 5 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 4:54,894,747...54,934,869
Ensembl chr 4:54,894,784...54,934,986
JBrowse link
G GPR151 G protein-coupled receptor 151 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:28492532 PMID:33279834 NCBI chr 2:40,921,953...40,924,699
Ensembl chr 2:40,923,259...40,924,515
JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18215156 NCBI chr18:49,905,161...49,908,182
Ensembl chr18:49,905,161...49,908,182
JBrowse link
G HNMT histamine N-methyltransferase no_association ISO RGD PMID:18543121 PMID:19773194 RGD:5509775 RGD:5509776 NCBI chr19:40,656,266...40,702,498
Ensembl chr19:40,655,161...40,702,218
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 chr11:4,279,362...4,423,080
Ensembl chr11:4,154,746...4,423,078
JBrowse link
G LINGO1 leucine rich repeat and Ig domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19182806 NCBI chr30:38,668,199...38,738,178
Ensembl chr30:38,721,394...38,737,464
JBrowse link
G MAPT microtubule associated protein tau no_association ISO DNA:SNP: :rs1052553 (human) RGD PMID:22911817 RGD:8158098 NCBI chr 9:9,572,174...9,674,082
Ensembl chr 9:9,570,557...9,674,349
JBrowse link
G MS4A14 membrane spanning 4-domains A14 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr21:50,663,060...50,690,248 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 chr12:37,359,200...37,502,342
Ensembl chr12:37,413,570...37,500,724
JBrowse link
G OR5K4 olfactory receptor family 5 subfamily K member 4 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr33:5,271,605...5,272,534
Ensembl chr33:5,271,605...5,272,534
JBrowse link
G OR5K8 olfactory receptor family 5 subfamily K member 8 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834
G OR6C1L olfactory receptor family 6 subfamily C member 1L ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr14:30,168...31,893
Ensembl chr14:30,955...31,893
JBrowse link
G PRSS48 serine protease 48 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr15:49,221,279...49,231,212
Ensembl chr15:49,222,404...49,229,278
JBrowse link
G SH3D19 SH3 domain containing 19 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr15:49,076,194...49,244,691
Ensembl chr15:49,081,803...49,168,312
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 chr 5:64,047,188...64,229,582
Ensembl chr 5:64,047,175...64,229,077
JBrowse link
G ATP7B ATPase copper transporting beta ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:25741868 NCBI chr22:162,474...225,599
Ensembl chr22:191,888...225,266
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 chr33:18,369,362...18,414,465
Ensembl chr33:18,372,865...18,412,277
JBrowse link
G GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:25741868 NCBI chr19:29,128,401...29,383,324
Ensembl chr19:29,130,227...29,383,658
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 6:17,059,904...17,071,227
Ensembl chr 6:17,060,061...17,071,178
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 chr21:17,819,846...20,234,096
Ensembl chr21:19,732,991...20,230,305
JBrowse link
essential tremor 6 term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102155262 neuroblastoma breakpoint family member 11-like ISO OMIM NCBI chr17:57,512,565...57,526,747 JBrowse link
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 chr 9:11,849,066...11,893,689
Ensembl chr 9:11,851,347...11,877,767
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 chr  X:116,249,079...116,287,008
Ensembl chr  X:116,249,142...116,321,439
JBrowse link
G SOD1 superoxide dismutase 1 ISO mRNA:increased expression:prefrontal cortex, brain stem (mouse) RGD PMID:24418349 RGD:8655858 NCBI chr31:26,540,291...26,544,212
Ensembl chr31:26,486,274...26,662,815
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 1:111,416,396...111,438,069
Ensembl chr 1:111,416,624...111,435,575
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15758
    Pathological Conditions, Signs and Symptoms 12321
      Signs and Symptoms 10316
        Neurologic Manifestations 9992
          Dyskinesias 2169
            Tremor 81
              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 15758
    disease of anatomical entity 15377
      nervous system disease 13504
        central nervous system disease 12072
          brain disease 11337
            movement disease 2552
              Dyskinesias 2169
                Tremor 81
                  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