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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 chrNW_004624740:16,275,108...16,280,639
Ensembl chrNW_004624740:16,275,117...16,281,793
JBrowse link
G Adora2a adenosine A2a receptor ISO CTD Direct Evidence: marker/mechanism CTD PMID:16780890 NCBI chrNW_004624747:9,846,254...9,860,938
Ensembl chrNW_004624747:9,851,153...9,860,094
JBrowse link
G Adrb2 adrenoceptor beta 2 ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:190674 PMID:7902979 PMID:8102213 PMID:9151294 NCBI chrNW_004624774:8,211,723...8,215,962
Ensembl chrNW_004624774:8,211,984...8,213,240
JBrowse link
G Asf1a anti-silencing function 1A histone chaperone ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004624798:11,306,849...11,317,075 JBrowse link
G Aspa aspartoacylase ISO associated with Hcn1A354V allele RGD PMID:27026062 RGD:13464274 NCBI chrNW_004624786:6,168,785...6,202,223
Ensembl chrNW_004624786:6,168,721...6,188,312
JBrowse link
G Atp2b3 ATPase plasma membrane Ca2+ transporting 3 ISO RGD PMID:27013529 RGD:13825260 NCBI chrNW_004624946:247,032...307,645
Ensembl chrNW_004624946:247,168...307,663
JBrowse link
G Atp7a ATPase copper transporting alpha ISO CTD Direct Evidence: marker/mechanism CTD PMID:22815746 NCBI chrNW_004624836:2,804,349...3,058,125
Ensembl chrNW_004624836:2,808,681...2,993,452
JBrowse link
G Atrn attractin ISO DNA:deletion:exon RGD PMID:12379762 RGD:1299186 NCBI chrNW_004624741:4,559,149...4,745,840
Ensembl chrNW_004624741:4,559,121...4,745,996
JBrowse link
G Cacna1a calcium voltage-gated channel subunit alpha1 A ISO ClinVar Annotator: match by term: Intention tremor ClinVar PMID:28492532 NCBI chrNW_004624901:707,322...932,658
Ensembl chrNW_004624901:708,234...932,643
JBrowse link
G Cacna1c calcium voltage-gated channel subunit alpha1 C ISO ClinVar Annotator: match by term: Intention tremor ClinVar NCBI chrNW_004624735:10,201,030...10,927,349
Ensembl chrNW_004624735:10,201,526...10,432,896
JBrowse link
G Calhm4 calcium homeostasis modulator family member 4 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004624856:1,845,710...1,849,885
Ensembl chrNW_004624856:1,845,809...1,849,885
JBrowse link
G Calhm5 calcium homeostasis modulator family member 5 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004624856:1,929,416...1,936,196
Ensembl chrNW_004624856:1,931,511...1,935,794
JBrowse link
G Calhm6 calcium homeostasis modulator family member 6 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004624856:1,989,913...1,992,496
Ensembl chrNW_004624856:1,986,546...1,992,578
JBrowse link
G Cep85l centrosomal protein 85 like ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004624798:11,482,163...11,592,698
Ensembl chrNW_004624798:11,482,438...11,593,028
JBrowse link
G Chrm4 cholinergic receptor muscarinic 4 ISO CTD Direct Evidence: marker/mechanism CTD PMID:9920179 NCBI chrNW_004624767:2,162,719...2,170,921
Ensembl chrNW_004624767:2,162,712...2,171,012
JBrowse link
G Cplx1 complexin 1 ISO RGD PMID:31875236 RGD:127285808 NCBI chrNW_004624755:26,265,590...26,286,203
Ensembl chrNW_004624755:26,266,614...26,288,079
JBrowse link
G Dcbld1 discoidin, CUB and LCCL domain containing 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004624798:12,231,258...12,303,658
Ensembl chrNW_004624798:12,229,408...12,304,371
JBrowse link
G Dse dermatan sulfate epimerase ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004624856:1,990,967...2,100,162
Ensembl chrNW_004624856:2,012,459...2,054,703
JBrowse link
G Fam184a family with sequence similarity 184 member A ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004624798:11,182,893...11,280,399
Ensembl chrNW_004624798:11,182,977...11,276,294
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 chrNW_004624885:2,315,371...2,321,327
Ensembl chrNW_004624885:2,315,142...2,321,327
JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:25741868 NCBI chrNW_004624732:24,159,407...24,381,495
Ensembl chrNW_004624732:24,159,312...24,328,452
JBrowse link
G Gopc golgi associated PDZ and coiled-coil motif containing ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004624798:12,188,460...12,216,542
Ensembl chrNW_004624798:12,188,635...12,218,305
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 chrNW_004624798:12,865,834...12,888,598
Ensembl chrNW_004624798:12,865,731...12,888,685
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 chrNW_004624759:9,636,380...10,044,832
Ensembl chrNW_004624759:9,636,457...10,049,403
JBrowse link
G Htr1a 5-hydroxytryptamine receptor 1A ISO CTD Direct Evidence: marker/mechanism CTD PMID:11070179 NCBI chrNW_004624815:5,817,196...5,821,197
Ensembl chrNW_004624815:5,816,601...5,820,864
JBrowse link
G Kpna5 karyopherin subunit alpha 5 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004624798:12,926,980...12,986,889
Ensembl chrNW_004624798:12,926,840...12,986,888
JBrowse link
G Man1a1 mannosidase alpha class 1A member 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004624798:10,986,465...11,117,182
Ensembl chrNW_004624798:10,986,519...11,117,650
JBrowse link
G Mcm9 minichromosome maintenance 9 homologous recombination repair factor ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004624798:11,287,882...11,370,040
Ensembl chrNW_004624798:11,290,074...11,367,495
JBrowse link
G Mpz myelin protein zero ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:25741868 NCBI chrNW_004624794:101,095...106,508
Ensembl chrNW_004624794:100,824...106,444
JBrowse link
G Nus1 NUS1 dehydrodolichyl diphosphate synthase subunit ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004624798:12,132,570...12,154,252
Ensembl chrNW_004624798:12,130,569...12,154,314
JBrowse link
G Pln phospholamban ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004624798:11,522,245...11,528,741
Ensembl chrNW_004624798:11,522,269...11,528,775
JBrowse link
G Prkar1b protein kinase cAMP-dependent type I regulatory subunit beta ISO RGD PMID:33479380 RGD:150519900 NCBI chrNW_004624740:26,202,882...26,315,987
Ensembl chrNW_004624740:26,202,375...26,315,352
JBrowse link
G Rel REL proto-oncogene, NF-kB subunit ISO CTD Direct Evidence: therapeutic CTD PMID:31481676 NCBI chrNW_004624833:1,016,330...1,053,514
Ensembl chrNW_004624833:1,022,656...1,053,342
JBrowse link
G Rfx6 regulatory factor X6 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004624798:12,735,428...12,795,502
Ensembl chrNW_004624798:12,736,083...12,795,502
JBrowse link
G Ros1 ROS proto-oncogene 1, receptor tyrosine kinase ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004624798:12,339,446...12,449,316 JBrowse link
G Rsph4a radial spoke head component 4A ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004624798:13,022,429...13,046,836
Ensembl chrNW_004624798:13,023,982...13,046,116
JBrowse link
G Rwdd1 RWD domain containing 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004624856:1,818,374...1,838,368 JBrowse link
G Scn8a sodium voltage-gated channel alpha subunit 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19261867 NCBI chrNW_004624816:498,737...631,850
Ensembl chrNW_004624816:499,179...631,936
JBrowse link
G Slc35f1 solute carrier family 35 member F1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004624798:11,680,474...12,000,007
Ensembl chrNW_004624798:11,683,337...12,000,021
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 chrNW_004624760:7,843,741...7,914,444
Ensembl chrNW_004624760:7,842,640...7,914,484
JBrowse link
G Tbc1d24 TBC1 domain family member 24 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24033266 PMID:25741868 PMID:28492532 NCBI chrNW_004624824:245,717...251,603
Ensembl chrNW_004624824:243,939...254,249
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 chrNW_004624763:1,219,779...1,281,297
Ensembl chrNW_004624763:1,219,827...1,264,071
JBrowse link
G Trappc3l trafficking protein particle complex subunit 3L ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004624856:1,871,510...1,945,004
Ensembl chrNW_004624856:1,871,510...1,945,004
JBrowse link
G Trh thyrotropin releasing hormone ISO CTD Direct Evidence: marker/mechanism|therapeutic CTD PMID:103733 PMID:416961 NCBI chrNW_004624872:866,370...868,624
Ensembl chrNW_004624872:866,365...868,739
JBrowse link
G Unc13a unc-13 homolog A ISO ClinVar Annotator: match by term: tremors ClinVar PMID:25741868 PMID:28192369 NCBI chrNW_004624908:418,248...464,203 JBrowse link
G Vgll2 vestigial like family member 2 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004624798:12,457,614...12,464,090 JBrowse link
G Zup1 zinc finger containing ubiquitin peptidase 1 ISO ClinVar Annotator: match by term: Tremor ClinVar PMID:24824130 NCBI chrNW_004624798:12,992,315...13,021,450
Ensembl chrNW_004624798:12,991,865...13,021,268
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 chrNW_004624751:21,812,567...21,817,837
Ensembl chrNW_004624751:21,812,850...21,814,747
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 chrNW_004624758:5,963,281...6,152,870
Ensembl chrNW_004624758:5,960,094...6,151,653
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 chrNW_004624750:6,380,658...6,447,404
Ensembl chrNW_004624750:6,382,065...6,447,317
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 chrNW_004624760:1,029,318...1,038,375
Ensembl chrNW_004624760:1,029,257...1,037,821
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 chrNW_004624730:8,497,781...8,649,058
Ensembl chrNW_004624730:8,517,998...8,648,318
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 chrNW_004624817:8,009,054...8,076,609 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 chrNW_004624731:34,318,733...34,369,111
Ensembl chrNW_004624731:34,319,130...34,363,184
JBrowse link
G Fam228b family with sequence similarity 228 member B ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chrNW_004624738:6,424,443...6,445,581
Ensembl chrNW_004624738:6,425,351...6,440,842
JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15765150 NCBI chrNW_004624733:27,708,364...27,763,824
Ensembl chrNW_004624733:27,708,271...27,763,523
JBrowse link
G Gemin5 gem nuclear organelle associated protein 5 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chrNW_004624733:34,379,585...34,426,437
Ensembl chrNW_004624733:34,379,660...34,426,438
JBrowse link
G Gpr151 G protein-coupled receptor 151 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:28492532 PMID:33279834 NCBI chrNW_004624774:5,994,386...5,995,875 JBrowse link
G Hnmt histamine N-methyltransferase no_association ISO RGD PMID:18543121 PMID:19773194 RGD:5509775 RGD:5509776 NCBI chrNW_004624732:37,621,014...37,689,873
Ensembl chrNW_004624732:37,620,925...37,691,708
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 chrNW_004624733:7,429,681...7,931,192
Ensembl chrNW_004624733:7,429,681...7,578,596
JBrowse link
G Lingo1 leucine rich repeat and Ig domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19182806 NCBI chrNW_004624894:648,357...791,168
Ensembl chrNW_004624894:648,785...791,168
JBrowse link
G Mapt microtubule associated protein tau no_association ISO DNA:SNP: :rs1052553 (human) RGD PMID:22911817 RGD:8158098 NCBI chrNW_004624849:2,320,887...2,421,099 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 chrNW_004624819:2,835,783...2,999,819
Ensembl chrNW_004624819:2,896,374...2,999,819
JBrowse link
G Prss48 serine protease 48 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chrNW_004624858:2,714,039...2,729,154
Ensembl chrNW_004624858:2,714,718...2,733,283
JBrowse link
G Sh3d19 SH3 domain containing 19 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chrNW_004624858:2,558,035...2,750,502
Ensembl chrNW_004624858:2,560,049...2,750,467
JBrowse link
G Tgm4 transglutaminase 4 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chrNW_004624730:75,597,903...75,619,589 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 chrNW_004624746:378,123...576,809
Ensembl chrNW_004624746:461,933...577,050
JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:25741868 NCBI chrNW_004624748:2,112,574...2,183,994
Ensembl chrNW_004624748:2,113,094...2,205,856
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 chrNW_004624731:34,318,733...34,369,111
Ensembl chrNW_004624731:34,319,130...34,363,184
JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:25741868 NCBI chrNW_004624732:24,159,407...24,381,495
Ensembl chrNW_004624732:24,159,312...24,328,452
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 chrNW_004624782:14,211,294...14,223,698 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 chrNW_004624863:1,643,173...2,374,330
Ensembl chrNW_004624863:1,643,076...2,149,630
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 chrNW_004624849:1,436,372...1,483,531
Ensembl chrNW_004624849:1,436,047...1,483,531
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 chrNW_004624883:645,524...681,705
Ensembl chrNW_004624883:645,449...682,292
JBrowse link
G Sod1 superoxide dismutase 1 ISO mRNA:increased expression:prefrontal cortex, brain stem (mouse) RGD PMID:24418349 RGD:8655858 NCBI chrNW_004624745:20,032,003...20,037,958
Ensembl chrNW_004624745:20,032,011...20,037,958
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 chrNW_004624907:1,237,658...1,255,589
Ensembl chrNW_004624907:1,237,451...1,255,586
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14230
    Pathological Conditions, Signs and Symptoms 11246
      Signs and Symptoms 9467
        Neurologic Manifestations 9170
          Dyskinesias 2035
            Tremor 74
              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 + 22
              fragile X-associated tremor/ataxia syndrome 2
Path 2
Term Annotations click to browse term
  disease 14230
    disease of anatomical entity 13932
      nervous system disease 12270
        central nervous system disease 10995
          brain disease 10311
            movement disease 2382
              Dyskinesias 2035
                Tremor 74
                  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 + 22
                  fragile X-associated tremor/ataxia syndrome 2
paths to the root