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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 3:8,732,451...8,738,274
Ensembl chr 3:8,732,441...8,738,605
JBrowse link
G ADORA2A adenosine A2a receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16780890 NCBI chr14:49,467,186...49,485,845
Ensembl chr14:49,468,877...49,485,850
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 2:150,032,649...150,035,591
Ensembl chr 2:150,033,579...150,040,731
JBrowse link
G ASF1A anti-silencing function 1A histone chaperone ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:43,200,339...43,215,019
Ensembl chr 1:43,200,415...43,214,913
JBrowse link
G ASPA aspartoacylase ISO associated with Hcn1A354V allele RGD PMID:27026062 RGD:13464274 NCBI chr12:49,612,845...49,630,303
Ensembl chr12:49,610,519...49,641,864
JBrowse link
G ATP2B3 ATPase plasma membrane Ca2+ transporting 3 ISO RGD PMID:27013529 RGD:13825260 NCBI chr  X:124,318,874...124,357,653
Ensembl chr  X:124,301,713...124,357,653
JBrowse link
G ATP7A ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22815746 NCBI chr  X:61,972,544...62,110,058
Ensembl chr  X:61,972,991...62,110,048
JBrowse link
G ATRN attractin ISO DNA:deletion:exon RGD PMID:12379762 RGD:1299186 NCBI chr17:32,054,240...32,239,576
Ensembl chr17:32,054,249...32,239,519
JBrowse link
G CACNA1A calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Intention tremor ClinVar PMID:28492532 NCBI chr 2:65,491,784...65,871,068
Ensembl chr 2:65,514,509...65,871,182
JBrowse link
G CACNA1C calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Intention tremor ClinVar NCBI chr 5:69,016,954...69,448,428
Ensembl chr 5:69,275,176...69,454,459
JBrowse link
G CALHM4 calcium homeostasis modulator family member 4 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:82,109,535...82,154,349
Ensembl chr 1:82,149,968...82,154,057
JBrowse link
G CALHM5 calcium homeostasis modulator family member 5 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:82,109,042...82,119,480
Ensembl chr 1:82,108,977...82,119,476
JBrowse link
G CALHM6 calcium homeostasis modulator family member 6 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:82,085,781...82,087,897
Ensembl chr 1:82,085,714...82,087,889
JBrowse link
G CEP85L centrosomal protein 85 like ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:43,392,630...43,564,835
Ensembl chr 1:43,392,645...43,563,695
JBrowse link
G CHRM4 cholinergic receptor muscarinic 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9920179 NCBI chr 2:16,119,794...16,131,080
Ensembl chr 2:16,122,704...16,130,810
JBrowse link
G CPLX1 complexin 1 ISO RGD PMID:31875236 RGD:127285808 NCBI chr 8:197,876...231,721
Ensembl chr 8:197,882...205,371
JBrowse link
G CYP2D6 cytochrome P450 family 2 subfamily D member 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15570195 NCBI chr 5:6,539,021...6,543,643
Ensembl chr 5:6,538,907...6,543,642
JBrowse link
G DCBLD1 discoidin, CUB and LCCL domain containing 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:44,301,108...44,373,712
Ensembl chr 1:44,276,675...44,373,687
JBrowse link
G DSE dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:81,996,894...82,063,847
Ensembl chr 1:81,934,679...82,062,982
JBrowse link
G FAM162B family with sequence similarity 162 member B ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:44,889,582...44,897,184
Ensembl chr 1:44,889,665...44,897,571
JBrowse link
G FAM184A family with sequence similarity 184 member A ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:43,003,765...43,113,643
Ensembl chr 1:43,003,390...43,113,631
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 4:94,583,905...94,606,689
Ensembl chr 4:94,584,134...94,609,745
JBrowse link
G GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:25741868 NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306
JBrowse link
G GOPC golgi associated PDZ and coiled-coil motif containing ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:44,239,364...44,285,886
Ensembl chr 1:44,239,383...44,287,198
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 1:44,852,731...44,875,518
Ensembl chr 1:44,854,512...44,874,777
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 chr16:29,439,294...29,808,855
Ensembl chr16:29,439,264...29,808,993
JBrowse link
G HTR1A 5-hydroxytryptamine receptor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11070179 NCBI chr16:42,479,812...42,484,365
Ensembl chr16:42,478,923...42,484,304
JBrowse link
G KPNA5 karyopherin subunit alpha 5 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:44,900,495...44,941,219
Ensembl chr 1:44,900,497...44,938,947
JBrowse link
G MAN1A1 mannosidase alpha class 1A member 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:42,729,722...42,896,290
Ensembl chr 1:42,729,722...42,896,283
JBrowse link
G MCM9 minichromosome maintenance 9 homologous recombination repair factor ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:43,171,906...43,268,533
Ensembl chr 1:43,171,892...43,269,169
JBrowse link
G MPZ myelin protein zero ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:25741868 NCBI chr 4:89,174,107...89,179,556
Ensembl chr 4:89,169,311...89,179,925
JBrowse link
G NUS1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:44,156,771...44,186,224
Ensembl chr 1:44,156,778...44,186,194
JBrowse link
G PLN phospholamban ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:43,449,354...43,458,925
Ensembl chr 1:43,449,354...43,458,925
JBrowse link
G PRKAR1B protein kinase cAMP-dependent type I regulatory subunit beta ISO RGD PMID:33479380 RGD:150519900 NCBI chr 3:343,124...425,154
Ensembl chr 3:343,139...425,165
JBrowse link
G REL REL proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: therapeutic CTD PMID:31481676 NCBI chr 3:80,861,862...80,912,233
Ensembl chr 3:80,872,255...80,911,939
JBrowse link
G RFX6 regulatory factor X6 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:44,765,451...44,826,884
Ensembl chr 1:44,765,451...44,823,510
JBrowse link
G ROS1 ROS proto-oncogene 1, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:44,409,877...44,535,784
Ensembl chr 1:44,410,351...44,534,874
JBrowse link
G RSPH4A radial spoke head component 4A ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:44,964,433...45,004,925
Ensembl chr 1:44,963,886...44,985,202
JBrowse link
G RWDD1 RWD domain containing 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:82,161,371...82,180,325
Ensembl chr 1:82,161,741...82,182,177
JBrowse link
G SCN8A sodium voltage-gated channel alpha subunit 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19261867 NCBI chr 5:16,977,468...17,173,831
Ensembl chr 5:16,977,700...17,169,543
JBrowse link
G SLC35F1 solute carrier family 35 member F1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:43,653,453...44,057,851
Ensembl chr 1:43,653,460...43,837,390
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 1:268,116,124...268,205,805
Ensembl chr 1:268,116,120...268,205,778
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 3:39,545,688...39,572,320
Ensembl chr 3:39,545,218...39,571,277
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 4:42,878,249...42,931,106
Ensembl chr 4:42,879,140...42,931,121
JBrowse link
G TRAPPC3L trafficking protein particle complex subunit 3L ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:82,100,970...82,145,418
Ensembl chr 1:82,102,134...82,144,216
JBrowse link
G TRH thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:103733 PMID:416961 NCBI chr13:69,362,892...69,366,183
Ensembl chr13:69,364,093...69,365,493
JBrowse link
G UNC13A unc-13 homolog A ISO ClinVar Annotator: match by term: tremors ClinVar PMID:25741868 PMID:28192369 NCBI chr 2:60,057,926...60,130,015 JBrowse link
G VGLL2 vestigial like family member 2 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:44,549,407...44,557,793
Ensembl chr 1:44,549,412...44,557,797
JBrowse link
G ZUP1 zinc finger containing ubiquitin peptidase 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chr 1:44,939,914...45,013,764
Ensembl chr 1:44,939,951...44,961,145
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 chr11:50,729,746...50,732,626
Ensembl chr11:50,730,428...50,732,539
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 1:246,548,461...246,760,527
Ensembl chr 1:246,548,497...246,760,514
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 5:82,557,975...82,651,237
Ensembl chr 5:82,557,609...82,696,126
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
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 chr13:73,573,887...73,707,951
Ensembl chr13:73,573,926...73,707,948
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 9:3,177,007...3,242,892 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 chr13:145,769,294...145,817,997
Ensembl chr13:145,771,774...145,819,168
JBrowse link
G GABRA1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15765150 NCBI chr16:61,656,583...61,723,428
Ensembl chr16:61,656,587...61,723,119
JBrowse link
G GEMIN5 gem nuclear organelle associated protein 5 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr16:68,279,221...68,330,029
Ensembl chr16:68,279,239...68,326,850
JBrowse link
G GPR151 G protein-coupled receptor 151 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:28492532 PMID:33279834 NCBI chr 2:147,854,859...147,858,105
Ensembl chr 2:147,856,604...147,857,857
JBrowse link
G HNMT histamine N-methyltransferase no_association ISO RGD PMID:18543121 PMID:19773194 RGD:5509775 RGD:5509776 NCBI chr15:13,733,412...13,768,106
Ensembl chr15:13,732,680...13,768,199
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 chr 2:118,439,328...118,882,299
Ensembl chr 2:118,439,403...118,882,295
JBrowse link
G LINGO1 leucine rich repeat and Ig domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19182806 NCBI chr 7:57,684,591...57,890,121
Ensembl chr 7:57,684,589...57,890,126
JBrowse link
G LOC100157439 olfactory receptor 5K1-like ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr13:160,861,057...160,861,998 JBrowse link
G LOC100513883 olfactory receptor 5K4-like ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr13:160,992,044...160,993,003
Ensembl chr13:160,992,044...160,993,003
JBrowse link
G LOC100738909 protein FAM228B ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 3:114,537,223...114,577,993
Ensembl chr 3:114,537,226...114,577,956
JBrowse link
G LOC100739508 glutathione S-transferase P-like ISO CTD Direct Evidence: marker/mechanism CTD PMID:18215156 NCBI chr 2:5,005,498...5,009,247 JBrowse link
G LOC110255239 olfactory receptor 6C1-like ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 5:20,616,333...20,618,035 JBrowse link
G MAPT microtubule associated protein tau no_association ISO DNA:SNP: :rs1052553 (human) RGD PMID:22911817 RGD:8158098 NCBI chr12:17,098,259...17,211,483
Ensembl chr12:17,095,587...17,211,373
JBrowse link
G MS4A14 membrane spanning 4-domains A14 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 2:11,269,456...11,291,611 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 1:89,992,860...90,137,767
Ensembl chr 1:89,992,866...90,137,734
JBrowse link
G PRSS48 serine protease 48 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 8:77,734,395...77,736,400
Ensembl chr 8:77,716,235...77,726,478
JBrowse link
G SH3D19 SH3 domain containing 19 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 8:77,689,393...77,876,412
Ensembl chr 8:77,689,716...77,876,664
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 6:455,856...612,878
Ensembl chr 6:455,851...612,868
JBrowse link
G ATP7B ATPase copper transporting beta ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:25741868 NCBI chr11:15,892,549...15,942,070
Ensembl chr11:15,876,612...15,942,064
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 chr13:145,769,294...145,817,997
Ensembl chr13:145,771,774...145,819,168
JBrowse link
G GLI2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:25741868 NCBI chr15:30,312,528...30,580,272
Ensembl chr15:30,313,817...30,579,306
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 3:17,314,936...17,326,663
Ensembl chr 3:17,314,332...17,326,637
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 9:13,040,615...13,826,957
Ensembl chr 9:13,045,196...13,820,420
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 chr12:15,001,356...15,048,092
Ensembl chr12:15,002,175...15,047,582
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:120,361,232...120,400,282
Ensembl chr  X:120,361,367...120,399,831
JBrowse link
G SOD1 superoxide dismutase 1 ISO mRNA:increased expression:prefrontal cortex, brain stem (mouse) RGD PMID:24418349 RGD:8655858 NCBI chr13:195,326,573...195,335,273
Ensembl chr13:195,326,649...195,337,729
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 6:50,550,743...50,569,753
Ensembl chr 6:50,551,057...50,569,697
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15430
    Pathological Conditions, Signs and Symptoms 12091
      Signs and Symptoms 10145
        Neurologic Manifestations 9826
          Dyskinesias 2137
            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 + 26
              fragile X-associated tremor/ataxia syndrome 2
Path 2
Term Annotations click to browse term
  disease 15430
    disease of anatomical entity 15099
      nervous system disease 13251
        central nervous system disease 11841
          brain disease 11114
            movement disease 2509
              Dyskinesias 2137
                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 + 26
                  fragile X-associated tremor/ataxia syndrome 2
paths to the root