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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:essential tremor
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Accession:DOID:4990 term browser browse the term
Definition:A movement disorder that causes involuntary tremors, especially in the hands. It occurs alone without other neurological signs and symptoms. (DO)
Synonyms:exact_synonym: benign essential tremor;   benign essential tremors;   essential tremors;   familial tremor;   familial tremors;   hereditary essential tremor;   shaky hand syndrome
 related_synonym: ESSENTIAL TREMOR, SUSCEPTIBILITY TO
 primary_id: MESH:D020329
 xref: EFO:0003108;   GARD:5910;   ICD10CM:G25.0;   MIM:PS190300;   NCI:C182453
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
essential tremor term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aspaem34Kyo aspartoacylase;TALEN induced mutant 34,Kyo IGI RGD PMID:32507787 RGD:150429620
G Ccdc183 coiled-coil domain containing 183 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 3:8,428,784...8,438,948 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 chr 8:104,767,785...104,877,317 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 1:159,990,785...160,077,990 JBrowse link
G Drd3 dopamine receptor D3 treatment ISO
IDA
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 More... RGD:1626359, RGD:13506957 NCBI chr11:70,385,586...70,437,793 JBrowse link
G Fam228b family with sequence similarity 228, member B ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 6:27,754,505...27,786,578 JBrowse link
G Gabra1 gamma-aminobutyric acid type A receptor subunit alpha 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:15765150 NCBI chr10:27,096,731...27,152,563 JBrowse link
G Gemin5 gem (nuclear organelle) associated protein 5 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr10:42,295,729...42,342,902 JBrowse link
G Gpr151 G protein-coupled receptor 151 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:28492532 PMID:33279834 NCBI chr18:34,568,907...34,570,301 JBrowse link
G Gstp1 glutathione S-transferase pi 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18215156 NCBI chr 1:210,767,237...210,770,242 JBrowse link
G Hcn1em1Kyo hyperpolarization-activated cyclic nucleotide-gated potassium channel 1; TALEN induced mutant 1, Kyo IGI RGD PMID:32507787 RGD:150429620
G Hnmt histamine N-methyltransferase no_association ISO RGD PMID:19773194 PMID:18543121 RGD:5509775, RGD:5509776 NCBI chr 3:26,978,274...27,010,291 JBrowse link
G Kcnn2 potassium calcium-activated channel subfamily N member 2 IMP DNA:missense mutation:cds:c. 866T>A (p. I289N)(rat) RGD PMID:28917524 RGD:38508907 NCBI chr18:37,817,966...38,258,347 JBrowse link
G Kcnn2Trdk potassium calcium-activated channel subfamily N member 2; Trdk mutant IMP DNA:missense mutation:cds:c. 866T>A (p. I289N)(rat) RGD PMID:28917524 RGD:38508907
G Lingo1 leucine rich repeat and Ig domain containing 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19182806 NCBI chr 8:57,011,272...57,193,496 JBrowse link
G Mapt microtubule-associated protein tau no_association ISO DNA:SNP: :rs1052553 (human) RGD PMID:22911817 RGD:8158098 NCBI chr10:89,638,618...89,736,108 JBrowse link
G Ms4a14 membrane spanning 4-domains A14 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 1:207,949,423...207,964,937 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 8:81,087,157...81,242,022 JBrowse link
G Or5k17 olfactory receptor family 5 subfamily K member 17 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr11:41,588,795...41,589,748 JBrowse link
G Or5k3 olfactory receptor family 5 subfamily K member 3 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr11:41,259,026...41,259,952 JBrowse link
G Or6c1h olfactory receptor family 6 subfamily C member 1H ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 7:2,099,351...2,100,301 JBrowse link
G Prss48 serine protease 48 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 2:171,358,946...171,387,051 JBrowse link
G Sh3d19 SH3 domain containing 19 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 2:173,654,234...173,814,030 JBrowse link
G Tgm4 transglutaminase 4 ISO ClinVar Annotator: match by term: Essential tremor ClinVar PMID:33279834 NCBI chr 8:122,689,429...122,726,463 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 chr19:50,940,284...51,098,962 JBrowse link
G Atp7b ATPase copper transporting beta ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:25741868 NCBI chr16:76,654,725...76,726,092 JBrowse link
G 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 More... NCBI chr11:70,385,586...70,437,793 JBrowse link
G Gli2 GLI family zinc finger 2 ISO ClinVar Annotator: match by term: Hand tremor ClinVar PMID:25741868 NCBI chr13:32,499,678...32,716,418 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 1:192,007,011...192,020,887 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 1:149,895,097...151,263,315 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 chr10:91,246,936...91,296,670 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    Pathological Conditions, Signs and Symptoms 13623
      Signs and Symptoms 11213
        Neurologic Manifestations 10448
          Dyskinesias 2234
            Tremor 94
              essential tremor 32
                Hereditary Essential Tremor and Idiopathic Normal Pressure Hydrocephalus 0
                essential tremor 1 4
                essential tremor 2 0
                essential tremor 3 0
                essential tremor 4 1
                essential tremor 5 1
                essential tremor 6 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18450
      nervous system disease 14359
        central nervous system disease 12634
          brain disease 11853
            movement disease 2633
              Dyskinesias 2234
                Tremor 94
                  essential tremor 32
                    Hereditary Essential Tremor and Idiopathic Normal Pressure Hydrocephalus 0
                    essential tremor 1 4
                    essential tremor 2 0
                    essential tremor 3 0
                    essential tremor 4 1
                    essential tremor 5 1
                    essential tremor 6 1
paths to the root