Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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



show annotations for term's descendants           Sort by:
Hyperkinesis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G ADCY1 adenylate cyclase 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16914643 NCBI chr 7:45,574,140...45,723,116
Ensembl chr 7:45,574,140...45,723,116
JBrowse link
G ADCY8 adenylate cyclase 8 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16914643 NCBI chr 8:130,780,301...131,040,909
Ensembl chr 8:130,780,301...131,040,909
JBrowse link
G ADORA2A adenosine A2a receptor EXP CTD Direct Evidence: therapeutic CTD PMID:15187444 NCBI chr22:24,423,597...24,442,357
Ensembl chr22:24,417,879...24,442,357
JBrowse link
G BCHE butyrylcholinesterase EXP CTD Direct Evidence: therapeutic CTD PMID:12019200 NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
JBrowse link
G CALCA calcitonin related polypeptide alpha EXP CTD Direct Evidence: therapeutic CTD PMID:6293644 PMID:6686863 NCBI chr11:14,966,668...14,972,351
Ensembl chr11:14,966,622...14,972,354
JBrowse link
G CCK cholecystokinin EXP CTD Direct Evidence: therapeutic CTD PMID:3561887 PMID:3735805 NCBI chr 3:42,257,826...42,266,185
Ensembl chr 3:42,257,825...42,266,185
JBrowse link
G CNTNAP2 contactin associated protein 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21962519 NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998
JBrowse link
G CRHR1 corticotropin releasing hormone receptor 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:19339610 NCBI chr17:45,784,320...45,835,828
Ensembl chr17:45,784,277...45,835,828
JBrowse link
G DISC1 DISC1 scaffold protein EXP CTD Direct Evidence: marker/mechanism CTD PMID:26754951 NCBI chr 1:231,626,790...232,041,272
Ensembl chr 1:231,626,790...232,041,272
JBrowse link
G DRD1 dopamine receptor D1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:24418703 NCBI chr 5:175,440,036...175,444,182
Ensembl chr 5:175,440,036...175,444,182
JBrowse link
G DRD2 dopamine receptor D2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:1975278 PMID:24418703 NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691
JBrowse link
G DRD3 dopamine receptor D3 EXP CTD Direct Evidence: therapeutic CTD PMID:16026479 NCBI chr 3:114,127,580...114,199,407
Ensembl chr 3:114,127,580...114,199,407
JBrowse link
G DRD4 dopamine receptor D4 ameliorates ISO mRNA:decreased expression:midbrain RGD PMID:12459514 PMID:11967637 RGD:401960114, RGD:401960108 NCBI chr11:637,269...640,706
Ensembl chr11:637,269...640,706
JBrowse link
G FOS Fos proto-oncogene, AP-1 transcription factor subunit EXP CTD Direct Evidence: marker/mechanism CTD PMID:18355967 NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,283,190
JBrowse link
G GABBR1 gamma-aminobutyric acid type B receptor subunit 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16990508 NCBI chr 6:29,602,238...29,633,183
Ensembl chr 6:29,555,629...29,633,976
JBrowse link
G GCG glucagon EXP CTD Direct Evidence: therapeutic CTD PMID:9798264 NCBI chr 2:162,142,882...162,152,247
Ensembl chr 2:162,142,882...162,152,404
JBrowse link
G GIT1 GIT ArfGAP 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:21499268 NCBI chr17:29,573,475...29,589,648
Ensembl chr17:29,573,475...29,594,054
JBrowse link
G GRIA1 glutamate ionotropic receptor AMPA type subunit 1 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18171924 PMID:19036973 NCBI chr 5:153,489,615...153,813,869
Ensembl chr 5:153,489,615...153,813,869
JBrowse link
G GRIA2 glutamate ionotropic receptor AMPA type subunit 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18171924 NCBI chr 4:157,220,120...157,366,075
Ensembl chr 4:157,204,182...157,387,146
JBrowse link
G HTR2A 5-hydroxytryptamine receptor 2A EXP CTD Direct Evidence: marker/mechanism CTD PMID:16300424 PMID:19347958 NCBI chr13:46,831,546...46,898,082
Ensembl chr13:46,831,546...46,897,076
JBrowse link
G HTR2C 5-hydroxytryptamine receptor 2C EXP CTD Direct Evidence: therapeutic CTD PMID:19347958 NCBI chr  X:114,584,086...114,910,061
Ensembl chr  X:114,584,078...114,910,061
JBrowse link
G HTR7 5-hydroxytryptamine receptor 7 ISO RGD PMID:18332680 RGD:6482186 NCBI chr10:90,740,823...90,858,039
Ensembl chr10:90,740,823...90,858,039
JBrowse link
G IL2 interleukin 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:8241462 NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
JBrowse link
G MAP6 microtubule associated protein 6 EXP CTD Direct Evidence: marker/mechanism CTD PMID:16046005 NCBI chr11:75,586,918...75,669,038
Ensembl chr11:75,586,918...75,669,038
JBrowse link
G NGF nerve growth factor EXP CTD Direct Evidence: marker/mechanism CTD PMID:1661212 NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
JBrowse link
G NPPC natriuretic peptide C EXP CTD Direct Evidence: therapeutic CTD PMID:11860464 NCBI chr 2:231,921,809...231,926,396
Ensembl chr 2:231,921,809...231,926,396
JBrowse link
G NPS neuropeptide S EXP CTD Direct Evidence: marker/mechanism CTD PMID:19339610 NCBI chr10:127,549,309...127,553,540
Ensembl chr10:127,549,309...127,553,540
JBrowse link
G NPY neuropeptide Y EXP CTD Direct Evidence: marker/mechanism CTD PMID:19063928 NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862
JBrowse link
G NTRK2 neurotrophic receptor tyrosine kinase 2 EXP CTD Direct Evidence: marker/mechanism CTD PMID:20826313 PMID:20947769 NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
JBrowse link
G NTS neurotensin EXP CTD Direct Evidence: therapeutic CTD PMID:3748325 PMID:6682440 NCBI chr12:85,874,295...85,882,992
Ensembl chr12:85,874,295...85,882,992
JBrowse link
G OXT oxytocin/neurophysin I prepropeptide EXP CTD Direct Evidence: therapeutic CTD PMID:18092152 NCBI chr20:3,071,620...3,072,517
Ensembl chr20:3,071,620...3,072,517
JBrowse link
G SLC6A3 solute carrier family 6 member 3 EXP CTD Direct Evidence: marker/mechanism CTD PMID:18347339 PMID:18588534 NCBI chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440
JBrowse link
G SNCG synuclein gamma EXP CTD Direct Evidence: marker/mechanism CTD PMID:18588534 NCBI chr10:86,955,759...86,963,258
Ensembl chr10:86,958,599...86,963,258
JBrowse link
G TH tyrosine hydroxylase EXP CTD Direct Evidence: marker/mechanism CTD PMID:9822156 NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815
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 IAGP ClinVar Annotator: match by term: Dyskinesia, limb and orofacial, infantile-onset
ClinVar Annotator: match by term: PDE10A-related condition
ClinVar Annotator: match by term: Dyskinesia, limb and orofacial, infantile-onset | ClinVar Annotator: match by term: PDE10A-related condition
ClinVar
OMIM
PMID:25741868 PMID:27058446 PMID:27058447 PMID:28492532 PMID:29159890 More... NCBI chr 6:165,327,289...165,988,052
Ensembl chr 6:165,327,287...165,988,117
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 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia ClinVar
OMIM
PMID:25741868 PMID:28492532 PMID:28971144 PMID:33704598 PMID:34631954 NCBI chr 3:123,282,296...123,449,090
Ensembl chr 3:123,282,296...123,449,090
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 LOC130004478 ATAC-STARR-seq lymphoblastoid silent region 2683 IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities ClinVar PMID:30564627 NCBI chr10:97,640,761...97,640,990 JBrowse link
G PI4K2A phosphatidylinositol 4-kinase type 2 alpha IAGP ClinVar Annotator: match by term: Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities ClinVar
OMIM
PMID:30564627 PMID:35880319 NCBI chr10:97,640,671...97,676,434
Ensembl chr10:97,640,671...97,676,434
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 IAGP 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 chr 2:218,633,329...218,659,623
Ensembl chr 2:218,633,329...218,659,655
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 121157
    Pathological Conditions, Signs and Symptoms 68282
      Signs and Symptoms 45558
        Neurologic Manifestations 35780
          Dyskinesias 2879
            Hyperkinesis 39
              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 2
              Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements 1
Path 2
Term Annotations click to browse term
  disease 121157
    disease of anatomical entity 111928
      nervous system disease 58678
        central nervous system disease 40438
          brain disease 37917
            movement disease 4123
              Dyskinesias 2879
                Hyperkinesis 39
                  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 2
                  Neurodevelopmental Disorder with Impaired Speech and Hyperkinetic Movements 1
paths to the root