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
Accession: DOID:9000495
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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Ache
acetylcholinesterase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:27083141
NCBI chr 5:137,286,516...137,292,728
Ensembl chr 5:137,285,781...137,292,728
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Adora2a
adenosine A2a receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16780890
NCBI chr10:75,152,711...75,170,626
Ensembl chr10:75,152,711...75,170,618
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Adrb2
adrenergic receptor, beta 2
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:190674 PMID:7902979 PMID:8102213 PMID:9151294
NCBI chr18:62,310,784...62,313,052
Ensembl chr18:62,310,887...62,313,030
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Asf1a
anti-silencing function 1A histone chaperone
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr10:53,473,057...53,485,321
Ensembl chr10:53,472,853...53,485,321
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Aspa
aspartoacylase
ISO
associated with Hcn1A354V allele
RGD
PMID:27026062
RGD:13464274
NCBI chr11:73,195,813...73,217,677
Ensembl chr11:73,195,818...73,220,422
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Atp2b3
ATPase, Ca++ transporting, plasma membrane 3
ISO
RGD
PMID:27013529
RGD:13825260
NCBI chr X:72,546,356...72,632,267
Ensembl chr X:72,546,692...72,614,611
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Atp7a
ATPase, copper transporting, alpha polypeptide
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:22815746
NCBI chr X:105,070,830...105,171,766
Ensembl chr X:105,070,882...105,168,532
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Atrn
attractin
ISO
DNA:deletion:exon
RGD
PMID:12379762
RGD:1299186
NCBI chr 2:130,734,363...130,872,249
Ensembl chr 2:130,748,415...130,872,253
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Cacna1a
calcium channel, voltage-dependent, P/Q type, alpha 1A subunit
ISO
ClinVar Annotator: match by term: Intention tremor
ClinVar
PMID:28492532
NCBI chr 8:85,065,257...85,366,880
Ensembl chr 8:85,065,268...85,366,875
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Cacna1c
calcium channel, voltage-dependent, L type, alpha 1C subunit
ISO
ClinVar Annotator: match by term: Intention tremor
ClinVar
NCBI chr 6:118,564,201...119,174,345
Ensembl chr 6:118,564,201...119,173,851
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Calhm4
calcium homeostasis modulator family member 4
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr10:33,914,780...33,920,309
Ensembl chr10:33,914,780...33,920,306
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Calhm5
calcium homeostasis modulator family member 5
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr10:33,967,348...33,972,515
Ensembl chr10:33,963,811...33,972,515
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Calhm6
calcium homeostasis modulator family member 6
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr10:34,002,063...34,003,968
Ensembl chr10:34,002,063...34,003,980
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Cep85l
centrosomal protein 85-like
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr10:53,149,537...53,256,765
Ensembl chr10:53,149,539...53,256,043
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Chrm4
cholinergic receptor, muscarinic 4
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9920179
NCBI chr 2:91,752,531...91,760,180
Ensembl chr 2:91,757,594...91,759,033
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Cplx1
complexin 1
ISO
RGD
PMID:31875236
RGD:127285808
NCBI chr 5:108,666,420...108,697,893
Ensembl chr 5:108,666,420...108,697,890
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Cyp2d22
cytochrome P450, family 2, subfamily d, polypeptide 22
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15570195
NCBI chr15:82,254,728...82,264,461
Ensembl chr15:82,254,728...82,264,461
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Dcbld1
discoidin, CUB and LCCL domain containing 1
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr10:52,109,674...52,197,474
Ensembl chr10:52,109,715...52,197,474
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Dse
dermatan sulfate epimerase
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr10:34,027,385...34,084,267
Ensembl chr10:34,027,389...34,083,711
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Fam162b
family with sequence similarity 162, member B
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr10:51,461,510...51,466,686
Ensembl chr10:51,461,512...51,466,613
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Fam184a
family with sequence similarity 184, member A
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr10:53,509,131...53,627,368
Ensembl chr10:53,509,241...53,627,219
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Gba1
glucosylceramidase beta 1
ISO
ClinVar Annotator: match by term: Resting tremor
ClinVar
PMID:1899336 PMID:1972019 PMID:2309702 PMID:2378352 PMID:2464926 PMID:2569551 PMID:2880291 PMID:3353383 PMID:7981693 PMID:8160756 PMID:8294487 PMID:8929950 PMID:9375849 PMID:10649495 PMID:10714667 PMID:10796875 PMID:11336129 PMID:14757438 PMID:15146461 PMID:15605411 PMID:16293621 PMID:16967369 PMID:17427031 PMID:17620502 PMID:17875915 PMID:18022370 PMID:18332251 PMID:18338393 PMID:18347322 PMID:18541817 PMID:18987351 PMID:19286695 PMID:20004703 PMID:20301446 PMID:20816920 PMID:21106416 PMID:21228398 PMID:21472771 PMID:21700212 PMID:21700325 PMID:21742527 PMID:21745757 PMID:21856586 PMID:22006919 PMID:22160715 PMID:22192918 PMID:22220748 PMID:22227073 PMID:22623374 PMID:22713811 PMID:22975760 PMID:23227814 PMID:23277556 PMID:23286447 PMID:23430543 PMID:23448517 PMID:23588557 PMID:23635853 PMID:23676350 PMID:23719189 PMID:24020503 PMID:24022302 PMID:24095219 PMID:24126159 PMID:24195576 PMID:24522292 PMID:25249066 PMID:25333069 PMID:25535748 PMID:25741868 PMID:26096741 PMID:27014572 PMID:27094865 PMID:27123474 PMID:27153395 PMID:27717005 PMID:27865684 PMID:27896091 PMID:28492532 PMID:28546865 PMID:28686011 PMID:28727984 PMID:28894968 PMID:28947706 PMID:28969384 PMID:29029963 PMID:29471591 PMID:29487000 PMID:29602947 PMID:29625627 PMID:29934114 PMID:30146349 PMID:30285649 PMID:30456712 PMID:30548430 PMID:30606667 PMID:30662625 PMID:30941926 PMID:31010158 PMID:31130284 PMID:31216804 PMID:31561936 PMID:32014045 PMID:32618053 PMID:32714263 PMID:32883051 PMID:33083013 PMID:33176831 PMID:33402667 PMID:33473340 PMID:33763395 PMID:33897756 PMID:33977031 PMID:34073924 PMID:34275192 More...
NCBI chr 3:89,110,235...89,119,944
Ensembl chr 3:89,110,235...89,116,273
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Gli2
GLI-Kruppel family member GLI2
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:25741868
NCBI chr 1:118,761,791...118,987,578
Ensembl chr 1:118,761,862...118,981,349
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Gopc
golgi associated PDZ and coiled-coil motif containing
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr10:52,213,120...52,258,220
Ensembl chr10:52,211,946...52,258,220
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Gprc6a
G protein-coupled receptor, family C, group 6, member A
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr10:51,490,919...51,507,554
Ensembl chr10:51,490,919...51,507,557
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Hcn1
hyperpolarization activated cyclic nucleotide gated potassium channel 1
ISO
DNA:missense mutation:cds:c.1061C>T, p.A354V(rat)
RGD
PMID:25970616
RGD:11060746
NCBI chr13:117,738,856...118,117,564
Ensembl chr13:117,738,856...118,123,954
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Htr1a
5-hydroxytryptamine (serotonin) receptor 1A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:11070179
NCBI chr13:105,580,040...105,584,630
Ensembl chr13:105,580,147...105,584,630
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Man1a
mannosidase 1, alpha
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr10:53,780,881...53,952,712
Ensembl chr10:53,780,881...53,952,705
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Mcm9
minichromosome maintenance 9 homologous recombination repair factor
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr10:53,412,411...53,507,251
Ensembl chr10:53,412,411...53,506,535
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Mpz
myelin protein zero
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:25741868
NCBI chr 1:170,978,282...170,988,699
Ensembl chr 1:170,978,280...170,988,699
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Nus1
NUS1 dehydrodolichyl diphosphate synthase subunit
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr10:52,293,643...52,316,288
Ensembl chr10:52,293,643...52,316,279
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Pln
phospholamban
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr10:53,213,782...53,222,095
Ensembl chr10:53,213,763...53,222,083
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Prkar1b
protein kinase, cAMP dependent regulatory, type I beta
ISO
RGD
PMID:33479380
RGD:150519900
NCBI chr 5:139,003,059...139,136,458
Ensembl chr 5:139,003,061...139,135,756
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Rel
reticuloendotheliosis oncogene
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:31481676
NCBI chr11:23,686,847...23,720,969
Ensembl chr11:23,686,847...23,720,970
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Rfx6
regulatory factor X, 6
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr10:51,553,856...51,606,525
Ensembl chr10:51,553,852...51,606,528
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Ros1
Ros1 proto-oncogene
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr10:51,920,959...52,071,494
Ensembl chr10:51,921,817...52,071,340
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Rsph4a
radial spoke head 4 homolog A (Chlamydomonas)
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr10:33,781,107...33,792,017
Ensembl chr10:33,781,107...33,792,017
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Rwdd1
RWD domain containing 1
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr10:33,872,551...33,895,612
Ensembl chr10:33,872,551...33,895,620
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Scn8a
sodium channel, voltage-gated, type VIII, alpha
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19261867
NCBI chr15:100,766,600...100,943,819
Ensembl chr15:100,767,739...100,943,819
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Slc35f1
solute carrier family 35, member F1
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr10:52,566,597...52,987,718
Ensembl chr10:52,566,629...52,987,718
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Stxbp1
syntaxin binding protein 1
ISO
ClinVar Annotator: match by term: tremors
ClinVar
PMID:20887364 PMID:24033266 PMID:25533962 PMID:25741868 PMID:26384463 PMID:26865513 PMID:26918652 PMID:27159321 PMID:28135719 PMID:28492532 More...
NCBI chr 2:32,677,619...32,737,249
Ensembl chr 2:32,677,614...32,737,257
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Tbc1d24
TBC1 domain family, member 24
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr17:24,394,405...24,424,536
Ensembl chr17:24,394,405...24,424,536
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Tmem67
transmembrane protein 67
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:19466712 PMID:19508969 PMID:19540516 PMID:19574260 PMID:20607301 PMID:21068128 PMID:21866095 PMID:23559409 PMID:25741868 PMID:26035863 PMID:26092869 PMID:28492532 More...
NCBI chr 4:12,039,355...12,090,020
Ensembl chr 4:12,039,363...12,090,020
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Trappc3l
trafficking protein particle complex 3 like
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr10:33,913,593...33,985,811
Ensembl chr10:33,913,593...33,985,811
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Trh
thyrotropin releasing hormone
ISO
CTD Direct Evidence: marker/mechanism|therapeutic
CTD
PMID:103733 PMID:416961
NCBI chr 6:92,219,042...92,221,631
Ensembl chr 6:92,219,042...92,221,631
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Unc13a
unc-13 homolog A
ISO
ClinVar Annotator: match by term: tremors
ClinVar
PMID:25741868 PMID:28192369
NCBI chr 8:72,079,356...72,124,418
Ensembl chr 8:72,077,061...72,124,401
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Vgll2
vestigial like family member 2
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr10:51,898,598...51,904,567
Ensembl chr10:51,898,598...51,904,567
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Zup1
zinc finger containing ubiquitin peptidase 1
ISO
ClinVar Annotator: match by term: Tremor
ClinVar
PMID:24824130
NCBI chr10:33,795,138...33,827,316
Ensembl chr10:33,795,138...33,827,265
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Pou4f1
POU domain, class 4, transcription factor 1
ISO
ClinVar Annotator: match by term: Ataxia, intention tremor, and hypotonia syndrome, childhood-onset | ClinVar Annotator: match by term: POU4F1-related condition
OMIM ClinVar
PMID:8876243 PMID:25741868 PMID:28492532 PMID:29758562 PMID:33783914
NCBI chr14:104,699,111...104,705,554
Ensembl chr14:104,699,112...104,705,435
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Slc44a1
solute carrier family 44, member 1
ISO
ClinVar Annotator: match by term: Neurodegeneration, childhood-onset, with ataxia, tremor, optic atrophy, and cognitive decline
OMIM ClinVar
PMID:25741868 PMID:28097321 PMID:31855247
NCBI chr 4:53,440,387...53,622,478
Ensembl chr 4:53,440,413...53,622,478
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Mybpc1
myosin binding protein C, slow-type
ISO
ClinVar Annotator: match by term: MYOGENIC TREMOR | ClinVar Annotator: match by term: Myopathy, congenital, with tremor
OMIM ClinVar
PMID:18414213 PMID:22610851 PMID:25741868 PMID:28492532 PMID:31025394 PMID:31264822 More...
NCBI chr10:88,354,141...88,441,051
Ensembl chr10:88,354,141...88,441,014
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Ccdc183
coiled-coil domain containing 183
ISO
ClinVar Annotator: match by term: Essential tremor
ClinVar
PMID:33279834
NCBI chr 2:25,498,641...25,507,690
Ensembl chr 2:25,498,647...25,507,690
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Dnajc13
DnaJ heat shock protein family (Hsp40) member C13
ISO
ClinVar Annotator: match by term: Essential tremor
ClinVar
PMID:24218364 PMID:25118025 PMID:27270108
NCBI chr 9:104,028,796...104,140,807
Ensembl chr 9:104,028,481...104,140,129
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Dnhd1
dynein heavy chain domain 1
ISO
ClinVar Annotator: match by term: Essential tremor
ClinVar
PMID:25741868 PMID:28492532 PMID:33279834
NCBI chr 7:105,299,983...105,371,007
Ensembl chr 7:105,300,034...105,371,006
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Drd3
dopamine receptor D3
treatment
ISO
DNA:polymorphism:CDS:p.S9G (human) ClinVar Annotator: match by term: Essential tremor, susceptibility to | ClinVar Annotator: match by term: Hereditary essential tremor
ClinVar RGD
PMID:1362221 PMID:8225313 PMID:8411064 PMID:9514583 PMID:16650084 PMID:16809426 PMID:17339592 PMID:25741868 PMID:16650084 PMID:26459182 More...
RGD:1626359 , RGD:13506957
NCBI chr16:43,574,285...43,646,353
Ensembl chr16:43,574,389...43,643,295
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Fam228b
family with sequence similarity 228, member B
ISO
ClinVar Annotator: match by term: Essential tremor
ClinVar
PMID:33279834
NCBI chr12:4,789,888...4,819,259
Ensembl chr12:4,789,888...4,819,267
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Gabra1
gamma-aminobutyric acid type A receptor subunit alpha 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:15765150
NCBI chr11:42,021,766...42,073,893
Ensembl chr11:42,021,766...42,073,757
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Gemin5
gem nuclear organelle associated protein 5
ISO
ClinVar Annotator: match by term: Essential tremor
ClinVar
PMID:33279834
NCBI chr11:58,010,827...58,059,378
Ensembl chr11:58,010,828...58,059,365
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Gpr151
G protein-coupled receptor 151
ISO
ClinVar Annotator: match by term: Essential tremor
ClinVar
PMID:28492532 PMID:33279834
NCBI chr18:42,710,946...42,712,717
Ensembl chr18:42,710,946...42,712,717
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Gstp1
glutathione S-transferase, pi 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18215156
NCBI chr19:4,085,411...4,087,912
Ensembl chr19:4,085,407...4,087,985
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Hnmt
histamine N-methyltransferase
no_association
ISO
RGD
PMID:19773194 PMID:18543121
RGD:5509775 , RGD:5509776
NCBI chr 2:23,892,923...23,939,756
Ensembl chr 2:23,892,922...23,939,406
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Kcnn2
potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2
ISO
DNA:missense mutation:cds:c. 866T>A (p. I289N)(rat)
RGD
PMID:28917524
RGD:38508907
NCBI chr18:45,401,754...45,818,954
Ensembl chr18:45,401,927...45,818,950
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Lingo1
leucine rich repeat and Ig domain containing 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19182806
NCBI chr 9:56,525,743...56,704,355
Ensembl chr 9:56,525,759...56,703,752
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Mapt
microtubule-associated protein tau
no_association
ISO
DNA:SNP: :rs1052553 (human)
RGD
PMID:22911817
RGD:8158098
NCBI chr11:104,120,235...104,222,916
Ensembl chr11:104,122,216...104,222,916
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Ms4a14
membrane-spanning 4-domains, subfamily A, member 14
ISO
ClinVar Annotator: match by term: Essential tremor
ClinVar
PMID:33279834
NCBI chr19:11,278,613...11,293,239
Ensembl chr19:11,278,613...11,291,818
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Myo6
myosin VI
ISO
ClinVar Annotator: match by term: Essential tremor
ClinVar
PMID:12687499 PMID:18348273 PMID:23767834 PMID:25080041 PMID:25741868 PMID:25999546 PMID:26969326 PMID:28492532 PMID:30582396 PMID:33279834 PMID:33297549 More...
NCBI chr 9:80,072,262...80,219,011
Ensembl chr 9:80,072,313...80,219,011
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Or5k16
olfactory receptor family 5 subfamily K member 16
ISO
ClinVar Annotator: match by term: Essential tremor
ClinVar
PMID:33279834
NCBI chr16:58,736,049...58,738,849
Ensembl chr16:58,734,648...58,749,755
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Or5k3
olfactory receptor family 5 subfamily K member 3
ISO
ClinVar Annotator: match by term: Essential tremor
ClinVar
PMID:33279834
NCBI chr16:58,969,215...58,970,141
Ensembl chr16:58,967,409...58,971,140
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Or6c1b
olfactory receptor family 6 subfamily C member 1B
ISO
ClinVar Annotator: match by term: Essential tremor
ClinVar
PMID:33279834
NCBI chr10:129,272,683...129,273,621
Ensembl chr10:129,263,175...129,274,949
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Prss48
serine protease 48
ISO
ClinVar Annotator: match by term: Essential tremor
ClinVar
PMID:33279834
NCBI chr 3:85,900,919...85,909,838
Ensembl chr 3:85,901,117...85,909,798
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Sh3d19
SH3 domain protein D19
ISO
ClinVar Annotator: match by term: Essential tremor
ClinVar
PMID:33279834
NCBI chr 3:85,878,112...86,037,833
Ensembl chr 3:85,878,416...86,037,833
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Tgm4
transglutaminase 4 (prostate)
ISO
ClinVar Annotator: match by term: Essential tremor
ClinVar
PMID:33279834
NCBI chr 9:122,863,806...122,896,623
Ensembl chr 9:122,863,791...122,896,626
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Ankrd11
ankyrin repeat domain 11
ISO
ClinVar Annotator: match by term: Hand tremor
ClinVar
PMID:25741868 PMID:26467025 PMID:28492532
NCBI chr 8:123,610,060...123,769,023
Ensembl chr 8:123,610,561...123,769,016
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Atp7b
ATPase, copper transporting, beta polypeptide
ISO
ClinVar Annotator: match by term: Hand tremor
ClinVar
PMID:25741868
NCBI chr 8:22,482,799...22,550,347
Ensembl chr 8:22,482,801...22,550,321
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Drd3
dopamine receptor D3
susceptibility
ISO
ClinVar Annotator: match by term: Tremor, hereditary essential, 1 CTD Direct Evidence: marker/mechanism
ClinVar OMIM CTD
PMID:1362221 PMID:8225313 PMID:8411064 PMID:9514583 PMID:16650084 PMID:16809426 PMID:17339592 PMID:25741868 PMID:28492532 More...
NCBI chr16:43,574,285...43,646,353
Ensembl chr16:43,574,389...43,643,295
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Gli2
GLI-Kruppel family member GLI2
ISO
ClinVar Annotator: match by term: Hand tremor
ClinVar
PMID:25741868
NCBI chr 1:118,761,791...118,987,578
Ensembl chr 1:118,761,862...118,981,349
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Fus
fused in sarcoma
ISO
ClinVar Annotator: match by term: FUS-related condition | ClinVar Annotator: match by term: Tremor, hereditary essential, 4
OMIM ClinVar
PMID:12840784 PMID:12858291 PMID:16199547 PMID:19251627 PMID:19251628 PMID:19450904 PMID:19741215 PMID:19741216 PMID:19861302 PMID:20018407 PMID:20124201 PMID:20138404 PMID:20142531 PMID:20232451 PMID:20385912 PMID:20544928 PMID:20577002 PMID:20579074 PMID:20598774 PMID:20606625 PMID:20621307 PMID:20660363 PMID:20668259 PMID:20668261 PMID:20674093 PMID:20699327 PMID:21158017 PMID:21261515 PMID:21280085 PMID:21487023 PMID:21604077 PMID:21881207 PMID:21907581 PMID:21943958 PMID:21949354 PMID:21965298 PMID:22055719 PMID:22292843 PMID:22722621 PMID:22863194 PMID:22980027 PMID:23046859 PMID:23056579 PMID:23085990 PMID:23217123 PMID:23577159 PMID:23834335 PMID:23834483 PMID:23881933 PMID:24080306 PMID:24204307 PMID:24262168 PMID:24575823 PMID:24899262 PMID:24908169 PMID:25173930 PMID:25324524 PMID:25382069 PMID:25558820 PMID:25585530 PMID:25625564 PMID:25631824 PMID:25741868 PMID:26251528 PMID:26467025 PMID:26725112 PMID:27123482 PMID:28430856 PMID:28492532 PMID:29486463 PMID:30279455 PMID:31069529 PMID:31475037 PMID:32116048 PMID:32638105 PMID:32951934 PMID:33082139 More...
NCBI chr 7:127,565,276...127,581,204
Ensembl chr 7:127,566,629...127,584,873
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Tenm4
teneurin transmembrane protein 4
ISO
ClinVar Annotator: match by term: TENM4-related condition | ClinVar Annotator: match by term: Tremor, hereditary essential, 5
OMIM ClinVar
PMID:25741868 PMID:26188006 PMID:28158909 PMID:28492532 PMID:34426522
NCBI chr 7:95,550,262...96,560,300
Ensembl chr 7:95,820,453...96,560,300
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Scn4a
sodium channel, voltage-gated, type IV, alpha
ISO
ClinVar Annotator: match by term: Tremor, hereditary essential, 6
ClinVar
PMID:28492532 PMID:34913263
NCBI chr11:106,208,374...106,256,385
Ensembl chr11:106,209,418...106,244,114
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Fmr1
fragile X messenger ribonucleoprotein 1
ISO IAGP
ClinVar Annotator: match by term: Fragile X tremor/ataxia syndrome | ClinVar Annotator: match by term: Fragile X-associated tremor/ataxia syndrome OMIM:300623 human gene in a mouse model CTD Direct Evidence: marker/mechanism
OMIM ClinVar MouseDO CTD RGD
PMID:25741868 PMID:27385396 PMID:15876460
RGD:12050151
NCBI chr X:67,722,144...67,761,569
Ensembl chr X:67,722,147...67,761,569
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Sod1
superoxide dismutase 1, soluble
IEP
mRNA:increased expression:prefrontal cortex, brain stem (mouse)
RGD
PMID:24418349
RGD:8655858
NCBI chr16:90,017,650...90,023,221
Ensembl chr16:90,017,642...90,023,217
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Smg9
SMG9 nonsense mediated mRNA decay factor
ISO
ClinVar Annotator: match by term: Neurodevelopmental disorder with intention tremor, pyramidal signs, dyspraxia, and ocular anomalies
ClinVar OMIM
PMID:35087184
NCBI chr 7:24,099,106...24,122,197
Ensembl chr 7:24,099,044...24,122,203
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all
Path 1
disease
16269
Pathological Conditions, Signs and Symptoms
12654
Signs and Symptoms
10542
Neurologic Manifestations
10199
Dyskinesias
2219
Tremor
80
ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET
1
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline
1
Geniospasm
0
NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES
1
Primary Orthostatic Tremor
0
Tremor of Intention, Ataxia, and Lipofuscinosis
0
congenital myopathy 16
1
essential tremor +
27
fragile X-associated tremor/ataxia syndrome
2
Path 2
disease
16269
disease of anatomical entity
15860
nervous system disease
13794
central nervous system disease
12313
brain disease
11555
movement disease
2613
Dyskinesias
2219
Tremor
80
ATAXIA, INTENTION TREMOR, AND HYPOTONIA SYNDROME, CHILDHOOD-ONSET
1
Childhood-onset Neurodegeneration with Ataxia, Tremor, Optic Atrophy, and Cognitive Decline
1
Geniospasm
0
NEURODEVELOPMENTAL DISORDER WITH INTENTION TREMOR, PYRAMIDAL SIGNS, DYSPRAXIA, AND OCULAR ANOMALIES
1
Primary Orthostatic Tremor
0
Tremor of Intention, Ataxia, and Lipofuscinosis
0
congenital myopathy 16
1
essential tremor +
27
fragile X-associated tremor/ataxia syndrome
2