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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 chr28:12,328,304...12,335,302
Ensembl chr28:12,331,039...12,335,076
JBrowse link
G ADORA2A adenosine A2a receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16780890 NCBI chr19:7,691,678...7,706,781
Ensembl chr19:7,691,536...7,706,926
JBrowse link
G ADRB2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:190674 PMID:7902979 PMID:8102213 PMID:9151294 NCBI chr23:51,445,920...51,447,942
Ensembl chr23:51,446,154...51,447,401
JBrowse link
G ASF1A anti-silencing function 1A histone chaperone ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr13:54,972,514...54,988,436
Ensembl chr13:54,969,299...54,988,558
JBrowse link
G ASPA aspartoacylase ISO associated with Hcn1A354V allele RGD PMID:27026062 RGD:13464274 NCBI chr16:2,980,325...3,005,632
Ensembl chr16:2,982,459...3,009,885
JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO RGD PMID:27013529 RGD:13825260 NCBI chr  X:127,966,366...128,013,900
Ensembl chr  X:127,966,492...128,013,901
JBrowse link
G ATP7A ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22815746 NCBI chr  X:66,843,519...66,985,655
Ensembl chr  X:66,843,558...66,985,709
JBrowse link
G ATRN attractin ISO DNA:deletion:exon RGD PMID:12379762 RGD:1299186 NCBI chr 2:34,157,240...34,335,902
Ensembl chr 2:34,157,293...34,335,923
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Intention tremor ClinVar PMID:28492532 NCBI chr 6:11,883,353...12,307,023 JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Intention tremor ClinVar NCBI chr11:2,107,722...2,753,970
Ensembl chr11:2,508,705...2,752,991
JBrowse link
G CALHM4 calcium homeostasis modulator family member 4 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr13:57,252,414...57,257,474
Ensembl chr13:57,252,676...57,257,116
JBrowse link
G CALHM5 calcium homeostasis modulator family member 5 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr13:57,294,969...57,300,539
Ensembl chr13:57,294,951...57,300,068
JBrowse link
G CALHM6 calcium homeostasis modulator family member 6 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr13:57,352,225...57,354,127
Ensembl chr13:57,349,681...57,354,318
JBrowse link
G CEP85L centrosomal protein 85 like ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr13:55,203,782...55,420,819
Ensembl chr13:55,225,893...55,420,795
JBrowse link
G CHRM4 cholinergic receptor muscarinic 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9920179 NCBI chr 1:18,937,455...18,945,390
Ensembl chr 1:18,942,643...18,944,079
JBrowse link
G CPLX1 complexin 1 ISO RGD PMID:31875236 RGD:127285808 NCBI chr27:47,959,109...48,002,338
Ensembl chr27:47,959,091...48,002,527
JBrowse link
G CYP2D6 cytochrome P450 family 2 subfamily D member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15570195 NCBI chr19:24,667,207...24,672,580
Ensembl chr19:24,667,282...24,671,513
JBrowse link
G DCBLD1 discoidin, CUB and LCCL domain containing 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr13:56,280,884...56,346,779
Ensembl chr13:56,280,888...56,346,610
JBrowse link
G DSE dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr13:57,377,001...57,447,589
Ensembl chr13:57,376,922...57,446,395
JBrowse link
G FAM162B family with sequence similarity 162 member B ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr13:57,052,879...57,067,243
Ensembl chr13:57,053,144...57,067,243
JBrowse link
G FAM184A family with sequence similarity 184 member A ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr13:54,775,147...54,913,979
Ensembl chr13:54,775,270...54,913,975
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 chr20:8,598,110...8,631,517
Ensembl chr20:8,598,628...8,630,990
JBrowse link
G GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:25741868 NCBI chr10:9,302,890...9,561,287
Ensembl chr10:9,304,645...9,369,115
JBrowse link
G GOPC golgi associated PDZ and coiled-coil motif containing ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr13:56,229,780...56,270,829
Ensembl chr13:56,229,810...56,272,830
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 chr13:56,994,267...57,028,736
Ensembl chr13:56,995,346...57,028,305
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 4:44,029,173...44,443,669 JBrowse link
G HTR1A 5-hydroxytryptamine receptor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11070179 NCBI chr 4:60,159,542...60,162,947
Ensembl chr 4:60,159,944...60,161,212
JBrowse link
G KPNA5 karyopherin subunit alpha 5 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr13:57,080,862...57,134,653
Ensembl chr13:57,080,084...57,134,154
JBrowse link
G MAN1A1 mannosidase alpha class 1A member 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr13:54,494,856...54,668,888
Ensembl chr13:54,496,370...54,671,539
JBrowse link
G MCM9 minichromosome maintenance 9 homologous recombination repair factor ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr13:54,945,668...55,069,869
Ensembl chr13:54,945,786...55,070,328
JBrowse link
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:25741868 NCBI chr20:2,662,163...2,668,393
Ensembl chr20:2,665,737...2,668,393
JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr13:56,115,581...56,147,918
Ensembl chr13:56,113,428...56,147,982
JBrowse link
G PLN phospholamban ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr13:55,316,962...55,332,502
Ensembl chr13:55,318,326...55,318,481
JBrowse link
G PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta ISO RGD PMID:33479380 RGD:150519900 NCBI chr28:20,838,247...21,016,196
Ensembl chr28:20,853,763...21,016,257
JBrowse link
G REL REL proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: therapeutic CTD PMID:31481676 NCBI chr14:46,068,212...46,097,226
Ensembl chr14:46,068,014...46,096,802
JBrowse link
G RFX6 regulatory factor X6 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr13:56,889,160...56,948,304
Ensembl chr13:56,889,780...56,946,413
JBrowse link
G ROS1 ROS proto-oncogene 1, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr13:56,412,451...56,561,382
Ensembl chr13:56,413,298...56,562,503
JBrowse link
G RSPH4A radial spoke head component 4A ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr13:57,175,100...57,192,184
Ensembl chr13:57,172,127...57,192,125
JBrowse link
G RWDD1 RWD domain containing 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr13:57,215,415...57,238,455
Ensembl chr13:57,215,152...57,238,570
JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19261867 NCBI chr11:47,770,513...47,983,843
Ensembl chr11:47,838,358...47,978,399
JBrowse link
G SLC35F1 solute carrier family 35 member F1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr13:55,556,862...55,955,502
Ensembl chr13:55,554,744...55,719,375
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 chr12:10,440,061...10,519,798
Ensembl chr12:10,439,801...10,519,777
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 5:2,353,543...2,378,950 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 8:88,726,783...88,818,111
Ensembl chr 8:88,726,837...88,792,049
JBrowse link
G TRAPPC3L trafficking protein particle complex subunit 3L ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr13:57,263,072...57,316,383
Ensembl chr13:57,265,724...57,315,607
JBrowse link
G TRH thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:103733 PMID:416961 NCBI chr22:51,075,814...51,079,852
Ensembl chr22:51,076,157...51,078,236
JBrowse link
G UNC13A unc-13 homolog A ISO ClinVar Annotator: match by term: tremors ClinVar PMID:25741868 PMID:28192369 NCBI chr 6:16,082,703...16,167,165
Ensembl chr 6:16,084,168...16,154,812
JBrowse link
G VGLL2 vestigial like family member 2 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr13:56,576,583...56,584,632
Ensembl chr13:56,577,660...56,584,427
JBrowse link
G ZUP1 zinc finger containing ubiquitin peptidase 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr13:57,146,150...57,172,473
Ensembl chr13:57,146,172...57,177,127
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 chr 3:57,667,248...57,673,071 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 chr12:34,068,642...34,261,635
Ensembl chr12:34,067,318...34,261,402
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 chr11:96,843,331...96,942,336
Ensembl chr11:96,843,512...96,944,035
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 chr12:1,379,961...1,391,539 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 chr15:57,727,636...57,846,469
Ensembl chr15:57,726,576...57,846,478
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 1:58,254,559...58,330,856
Ensembl chr 1:58,254,609...58,329,357
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 chr22:66,683,987...66,737,645
Ensembl chr22:66,691,177...66,736,690
JBrowse link
G FAM228B family with sequence similarity 228 member B ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr14:83,481,456...83,530,835
Ensembl chr14:83,485,126...83,531,316
JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15765150 NCBI chr23:64,199,372...64,255,996
Ensembl chr23:64,200,752...64,255,996
JBrowse link
G GEMIN5 gem nuclear organelle associated protein 5 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr23:57,333,907...57,383,814
Ensembl chr23:57,332,805...57,383,802
JBrowse link
G GPR151 G protein-coupled receptor 151 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:28492532 PMID:33279834 NCBI chr23:49,091,582...49,096,480
Ensembl chr23:49,093,339...49,094,598
JBrowse link
G GSTP1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18215156 NCBI chr 1:6,676,897...6,679,936 JBrowse link
G HNMT histamine N-methyltransferase no_association ISO RGD PMID:18543121 PMID:19773194 RGD:5509775 RGD:5509776 NCBI chr10:22,188,151...22,238,665
Ensembl chr10:22,188,110...22,238,671
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 chr23:17,595,661...17,735,675
Ensembl chr23:17,598,177...17,735,669
JBrowse link
G LINGO1 leucine rich repeat and Ig domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19182806 NCBI chr26:5,485,059...5,690,531
Ensembl chr26:5,688,293...5,690,155
JBrowse link
G LOC103228686 olfactory receptor 5K4 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr22:82,466,354...82,468,071 JBrowse link
G LOC119625674 olfactory receptor 5K3 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834
G MAPT microtubule associated protein tau no_association ISO DNA:SNP: :rs1052553 (human) RGD PMID:22911817 RGD:8158098 NCBI chr16:59,894,400...60,020,723
Ensembl chr16:59,890,221...59,955,612
JBrowse link
G MS4A14 membrane spanning 4-domains A14 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 1:13,384,442...13,408,540 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 chr13:527,361...620,418
Ensembl chr13:457,495...618,858
JBrowse link
G PRSS48 serine protease 48 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 7:97,846,970...97,862,664
Ensembl chr 7:97,847,122...97,862,271
JBrowse link
G SH3D19 SH3 domain containing 19 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 7:97,698,007...97,893,193
Ensembl chr 7:97,697,382...97,847,309
JBrowse link
G TGM4 transglutaminase 4 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr22:6,362,600...6,391,099
Ensembl chr22:6,362,782...6,390,223
JBrowse link
G ZNF528 zinc finger protein 528 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:25741868 PMID:28492532 PMID:33279834 NCBI chr 6:45,172,686...45,197,142
Ensembl chr 6:45,184,159...45,197,170
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 5:74,630,108...74,682,232
Ensembl chr 5:74,628,310...74,682,232
JBrowse link
G ATP7B ATPase copper transporting beta ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:25741868 NCBI chr 3:29,817,712...29,899,302
Ensembl chr 3:29,816,860...29,899,077
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 chr22:66,683,987...66,737,645
Ensembl chr22:66,691,177...66,736,690
JBrowse link
G GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:25741868 NCBI chr10:9,302,890...9,561,287
Ensembl chr10:9,304,645...9,369,115
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 5:27,870,456...27,881,563
Ensembl chr 5:27,870,330...27,882,145
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 1:69,864,570...70,450,485
Ensembl chr 1:69,869,359...70,110,710
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 chr16:57,273,143...57,331,677
Ensembl chr16:57,282,252...57,331,035
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:122,635,383...122,674,298
Ensembl chr  X:122,635,439...122,674,355
JBrowse link
G SOD1 superoxide dismutase 1 ISO mRNA:increased expression:prefrontal cortex, brain stem (mouse) RGD PMID:24418349 RGD:8655858 NCBI chr 2:60,461,219...60,472,999 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 6:37,253,023...37,277,536
Ensembl chr 6:37,250,791...37,277,557
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15417
    Pathological Conditions, Signs and Symptoms 12061
      Signs and Symptoms 10142
        Neurologic Manifestations 9820
          Dyskinesias 2140
            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 15417
    disease of anatomical entity 15080
      nervous system disease 13230
        central nervous system disease 11819
          brain disease 11089
            movement disease 2514
              Dyskinesias 2140
                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