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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:Hyperkinesis
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Accession:DOID:9002362 term browser browse the term
Definition:Excessive movement of muscles of the body as a whole, which may be associated with organic or psychological disorders.
Synonyms:exact_synonym: Generalized Hyperkinesia;   Generalized Hyperkinesias;   Hyperkinesia;   Hyperkinetic Movement;   Hyperkinetic Movements;   Motor Hyperactivity
 primary_id: MESH:D006948


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Hyperkinesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY1 adenylate cyclase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16914643 NCBI chr21:12,976,687...13,117,876
Ensembl chr21:12,979,033...13,117,730
JBrowse link
G ADCY8 adenylate cyclase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16914643 NCBI chr 8:125,269,396...125,535,806
Ensembl chr 8:125,269,736...125,533,015
JBrowse link
G ADORA2A adenosine A2a receptor ISO CTD Direct Evidence: therapeutic CTD PMID:15187444 NCBI chr19:7,691,678...7,706,781
Ensembl chr19:7,691,536...7,706,926
JBrowse link
G BCHE butyrylcholinesterase ISO CTD Direct Evidence: therapeutic CTD PMID:12019200 NCBI chr15:23,708,121...23,778,027
Ensembl chr15:23,708,155...23,778,286
JBrowse link
G CCK cholecystokinin ISO CTD Direct Evidence: therapeutic CTD PMID:3561887 PMID:3735805 NCBI chr22:3,698,192...3,705,443
Ensembl chr22:3,698,173...3,704,956
JBrowse link
G CNTNAP2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21962519 NCBI chr21:114,741,918...116,988,691 JBrowse link
G DISC1 DISC1 scaffold protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26754951 NCBI chr25:68,886,451...69,274,774
Ensembl chr25:68,946,430...69,263,198
JBrowse link
G DRD1 dopamine receptor D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24418703 NCBI chr23:77,587,340...77,591,434 JBrowse link
G DRD2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1975278 PMID:24418703 NCBI chr 1:104,774,632...104,843,417
Ensembl chr 1:104,774,180...104,842,736
JBrowse link
G DRD3 dopamine receptor D3 ISO CTD Direct Evidence: therapeutic CTD PMID:16026479 NCBI chr22:66,683,987...66,737,645
Ensembl chr22:66,691,177...66,736,690
JBrowse link
G DRD4 dopamine receptor D4 ameliorates ISO mRNA:decreased expression:midbrain RGD PMID:11967637 PMID:12459514 RGD:401960108 RGD:401960114 NCBI chr 1:454,018...459,582 JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18355967 NCBI chr24:52,497,465...52,501,161
Ensembl chr24:52,497,521...52,501,514
JBrowse link
G GABBR1 gamma-aminobutyric acid type B receptor subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16990508 NCBI chr17:42,985,816...43,017,278
Ensembl chr17:42,986,513...43,014,577
JBrowse link
G GCG glucagon ISO CTD Direct Evidence: therapeutic CTD PMID:9798264 NCBI chr10:47,550,097...47,560,610 JBrowse link
G GIT1 GIT ArfGAP 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499268 NCBI chr16:23,313,629...23,329,665
Ensembl chr16:23,315,439...23,329,469
JBrowse link
G GRIA1 glutamate ionotropic receptor AMPA type subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18171924 PMID:19036973 NCBI chr23:55,944,128...56,265,748
Ensembl chr23:56,101,294...56,265,849
JBrowse link
G GRIA2 glutamate ionotropic receptor AMPA type subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18171924 NCBI chr 7:103,808,789...103,957,947
Ensembl chr 7:103,808,797...103,953,040
JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16300424 PMID:19347958 NCBI chr 3:24,820,029...24,884,472
Ensembl chr 3:24,820,035...24,883,432
JBrowse link
G HTR2C 5-hydroxytryptamine receptor 2C ISO CTD Direct Evidence: therapeutic CTD PMID:19347958 NCBI chr  X:102,190,355...102,499,928
Ensembl chr  X:102,325,731...102,497,278
JBrowse link
G HTR7 5-hydroxytryptamine receptor 7 ISO RGD PMID:18332680 RGD:6482186 NCBI chr 9:84,081,713...84,191,112
Ensembl chr 9:84,083,396...84,190,876
JBrowse link
G IL2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8241462 NCBI chr 7:69,729,635...69,736,279
Ensembl chr 7:69,730,282...69,734,969
JBrowse link
G LOC103239768 calcitonin ISO CTD Direct Evidence: therapeutic CTD PMID:6293644 PMID:6686863 NCBI chr 1:49,946,574...49,956,010
Ensembl chr 1:49,951,694...49,954,092
JBrowse link
G LOC103243260 corticotropin-releasing factor receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19339610 NCBI chr16:60,070,156...60,120,857
Ensembl chr16:60,070,066...60,120,712
JBrowse link
G MAP6 microtubule associated protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16046005 NCBI chr 1:66,813,410...66,893,567
Ensembl chr 1:66,813,416...66,893,573
JBrowse link
G NGF nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:1661212 NCBI chr20:18,361,795...18,413,987
Ensembl chr20:18,413,108...18,413,833
JBrowse link
G NPPC natriuretic peptide C ISO CTD Direct Evidence: therapeutic CTD PMID:11860464 NCBI chr10:117,919,889...117,924,306
Ensembl chr10:117,919,760...117,924,273
JBrowse link
G NPS neuropeptide S ISO CTD Direct Evidence: marker/mechanism CTD PMID:19339610 NCBI chr 9:120,168,749...120,176,288 JBrowse link
G NPY neuropeptide Y ISO CTD Direct Evidence: marker/mechanism CTD PMID:19063928 NCBI chr21:34,068,533...34,076,205
Ensembl chr21:34,068,530...34,075,127
JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20826313 PMID:20947769 NCBI chr12:95,477,612...95,836,734
Ensembl chr12:95,479,447...95,620,364
JBrowse link
G NTS neurotensin ISO CTD Direct Evidence: therapeutic CTD PMID:3748325 PMID:6682440 NCBI chr11:81,270,147...81,278,327
Ensembl chr11:81,270,593...81,277,713
JBrowse link
G OXT oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: therapeutic CTD PMID:18092152 NCBI chr 2:33,749,520...33,750,981
Ensembl chr 2:33,750,108...33,750,968
JBrowse link
G SLC6A3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347339 PMID:18588534 NCBI chr 4:1,209,013...1,258,797
Ensembl chr 4:1,209,019...1,258,866
JBrowse link
G SNCG synuclein gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:18588534 NCBI chr 9:44,907,840...44,914,750
Ensembl chr 9:44,907,728...44,912,510
JBrowse link
G TH tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:9822156 NCBI chr 1:1,969,194...1,977,263
Ensembl chr 1:1,966,460...1,977,218
JBrowse link
Infantile-Onset Limb and Orofacial Dyskinesia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PDE10A phosphodiesterase 10A ISO ClinVar Annotator: match by term: Dyskinesia, limb and orofacial, infantile-onset | ClinVar Annotator: match by term: PDE10A-related condition OMIM
ClinVar
PMID:25741868 PMID:27058446 PMID:27058447 PMID:28492532 PMID:29159890 More... NCBI chr13:93,012,027...93,684,349
Ensembl chr13:93,020,696...93,344,369
JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY5 adenylate cyclase 5 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia OMIM
ClinVar
PMID:25741868 PMID:28492532 PMID:28971144 PMID:33704598 PMID:34631954 NCBI chr22:57,427,711...57,589,440 JBrowse link
NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G PI4K2A phosphatidylinositol 4-kinase type 2 alpha ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities ClinVar
OMIM
PMID:30564627 PMID:35880319 NCBI chr 9:90,805,197...90,840,047
Ensembl chr 9:90,805,086...90,834,730
JBrowse link
Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ZNF142 zinc finger protein 142 ISO ClinVar Annotator: match by term: Neurodevelopmental disorder with impaired speech and hyperkinetic movements | ClinVar Annotator: match by term: ZNF142-related condition OMIM
ClinVar
PMID:25741868 PMID:27066578 PMID:30389958 PMID:31036918 PMID:35616059 More... NCBI chr10:104,541,268...104,563,625
Ensembl chr10:104,541,698...104,560,696
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 9819
          Dyskinesias 2140
            Hyperkinesis 38
              Infantile-Onset Limb and Orofacial Dyskinesia 1
              NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA 1
              NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES 1
              Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements 1
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
                Hyperkinesis 38
                  Infantile-Onset Limb and Orofacial Dyskinesia 1
                  NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA 1
                  NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES 1
                  Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements 1
paths to the root