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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 chr14:81,911,240...82,020,594
Ensembl chr14:81,911,099...82,028,969 		JBrowse link
G Adcy8 adenylate cyclase 8 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16914643 NCBI chr 7:96,417,310...96,665,911
Ensembl chr 7:96,417,324...96,665,911 		JBrowse link
G Adora2a adenosine A2a receptor ISO CTD Direct Evidence: therapeutic CTD PMID:15187444 NCBI chr20:13,315,848...13,333,386
Ensembl chr20:13,315,853...13,333,386 		JBrowse link
G Bche butyrylcholinesterase ISO CTD Direct Evidence: therapeutic CTD PMID:12019200 NCBI chr 2:158,308,674...158,401,148
Ensembl chr 2:158,307,584...158,401,148 		JBrowse link
G Calca calcitonin-related polypeptide alpha ISO CTD Direct Evidence: therapeutic CTD PMID:6293644 PMID:6686863 NCBI chr 1:168,878,212...168,883,176
Ensembl chr 1:168,878,214...168,883,105 		JBrowse link
G Cck cholecystokinin ISO CTD Direct Evidence: therapeutic CTD PMID:3561887 PMID:3735805 NCBI chr 8:121,153,499...121,160,194
Ensembl chr 8:121,153,500...121,160,084 		JBrowse link
G Cntnap2 contactin associated protein 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21962519 NCBI chr 4:74,109,455...76,366,434
Ensembl chr 4:74,109,472...76,362,027 		JBrowse link
G Crhr1 corticotropin releasing hormone receptor 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:19339610 NCBI chr10:89,040,186...89,083,481
Ensembl chr10:89,040,203...89,083,481 		JBrowse link
G Disc1 DISC1 scaffold protein ISO CTD Direct Evidence: marker/mechanism CTD PMID:26754951 NCBI chr19:53,014,201...53,223,617
Ensembl chr19:53,014,616...53,219,778 		JBrowse link
G Drd1 dopamine receptor D1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:24418703 NCBI chr17:10,540,440...10,544,971
Ensembl chr17:10,540,558...10,545,002 		JBrowse link
G Drd2 dopamine receptor D2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:1975278 PMID:24418703 NCBI chr 8:49,708,927...49,772,876
Ensembl chr 8:49,708,927...49,772,875 		JBrowse link
G Drd3 dopamine receptor D3 ISO CTD Direct Evidence: therapeutic CTD PMID:16026479 NCBI chr11:56,879,689...56,931,901
Ensembl chr11:56,879,689...56,940,596 		JBrowse link
G Drd4 dopamine receptor D4 ameliorates IMP
HEP		 mRNA:decreased expression:midbrain RGD PMID:11967637 PMID:12459514 RGD:401960108, RGD:401960114 NCBI chr 1:196,396,366...196,400,824
Ensembl chr 1:196,396,366...196,399,553 		JBrowse link
G Fos Fos proto-oncogene, AP-1 transcription factor subunit ISO CTD Direct Evidence: marker/mechanism CTD PMID:18355967 NCBI chr 6:105,121,170...105,124,036
Ensembl chr 6:105,121,170...105,124,036 		JBrowse link
G Gabbr1 gamma-aminobutyric acid type B receptor subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16990508 NCBI chr20:1,464,534...1,494,114
Ensembl chr20:1,464,534...1,493,994 		JBrowse link
G Gcg glucagon ISO CTD Direct Evidence: therapeutic CTD PMID:9798264 NCBI chr 3:47,113,914...47,122,958
Ensembl chr 3:47,113,914...47,122,929 		JBrowse link
G Git1 GIT ArfGAP 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:21499268 NCBI chr10:62,342,082...62,356,379
Ensembl chr10:62,342,299...62,356,373 		JBrowse link
G Gria1 glutamate ionotropic receptor AMPA type subunit 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18171924 PMID:19036973 NCBI chr10:41,210,713...41,527,283
Ensembl chr10:41,210,713...41,527,283 		JBrowse link
G Gria2 glutamate ionotropic receptor AMPA type subunit 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18171924 NCBI chr 2:165,949,379...166,069,510
Ensembl chr 2:165,947,521...166,069,510 		JBrowse link
G Htr2a 5-hydroxytryptamine receptor 2A ISO CTD Direct Evidence: marker/mechanism CTD PMID:16300424 PMID:19347958 NCBI chr15:49,950,035...50,022,188
Ensembl chr15:49,950,804...50,020,928 		JBrowse link
G Htr2c 5-hydroxytryptamine receptor 2C ISO CTD Direct Evidence: therapeutic CTD PMID:19347958 NCBI chr  X:110,640,777...110,870,288
Ensembl chr  X:110,641,153...110,870,287 		JBrowse link
G Htr7 5-hydroxytryptamine receptor 7 ISO RGD PMID:18332680 RGD:6482186 NCBI chr 1:233,636,442...233,761,063
Ensembl chr 1:233,636,452...233,760,626 		JBrowse link
G Il2 interleukin 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:8241462 NCBI chr 2:120,004,862...120,009,566
Ensembl chr 2:120,004,862...120,009,566 		JBrowse link
G Map6 microtubule-associated protein 6 ISO CTD Direct Evidence: marker/mechanism CTD PMID:16046005 NCBI chr 1:153,568,020...153,634,415
Ensembl chr 1:153,568,368...153,634,414 		JBrowse link
G Ngf nerve growth factor ISO CTD Direct Evidence: marker/mechanism CTD PMID:1661212 NCBI chr 2:189,901,058...189,954,452
Ensembl chr 2:189,901,058...189,954,452 		JBrowse link
G Nppc natriuretic peptide C ISO CTD Direct Evidence: therapeutic CTD PMID:11860464 NCBI chr 9:87,320,051...87,324,251
Ensembl chr 9:87,320,051...87,324,251 		JBrowse link
G Nps neuropeptide S ISO CTD Direct Evidence: marker/mechanism CTD PMID:19339610 NCBI chr 1:190,077,040...190,080,821
Ensembl chr 1:190,077,040...190,080,821 		JBrowse link
G Npy neuropeptide Y ISO CTD Direct Evidence: marker/mechanism CTD PMID:19063928 NCBI chr 4:78,881,294...78,888,495
Ensembl chr 4:78,881,264...78,888,495 		JBrowse link
G Ntrk2 neurotrophic receptor tyrosine kinase 2 ISO CTD Direct Evidence: marker/mechanism CTD PMID:20826313 PMID:20947769 NCBI chr17:5,558,992...5,870,299
Ensembl chr17:5,559,043...5,869,136 		JBrowse link
G Nts neurotensin ISO CTD Direct Evidence: therapeutic CTD PMID:3748325 PMID:6682440 NCBI chr 7:37,564,944...37,574,350
Ensembl chr 7:37,564,533...37,574,423 		JBrowse link
G Oxt oxytocin/neurophysin I prepropeptide ISO CTD Direct Evidence: therapeutic CTD PMID:18092152 NCBI chr 3:117,782,650...117,783,490
Ensembl chr 3:117,782,650...117,783,490 		JBrowse link
G Slc6a3 solute carrier family 6 member 3 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18347339 PMID:18588534 NCBI chr 1:29,709,443...29,750,413
Ensembl chr 1:29,709,443...29,750,413 		JBrowse link
G Sncg synuclein, gamma ISO CTD Direct Evidence: marker/mechanism CTD PMID:18588534 NCBI chr16:9,700,513...9,705,751
Ensembl chr16:9,700,514...9,705,368 		JBrowse link
G Th tyrosine hydroxylase ISO CTD Direct Evidence: marker/mechanism CTD PMID:9822156 NCBI chr 1:198,071,500...198,078,832
Ensembl chr 1:198,071,503...198,109,767 		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 chr 1:51,765,743...52,218,086
Ensembl chr 1:51,770,132...52,216,563 		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 chr11:65,471,612...65,618,877
Ensembl chr11:65,471,612...65,618,974 		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 1:240,902,804...240,929,234
Ensembl chr 1:240,902,855...240,929,337 		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 Zfp142 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 chr 9:76,141,053...76,164,784
Ensembl chr 9:76,142,227...76,164,856 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19137
    Pathological Conditions, Signs and Symptoms 13626
      Signs and Symptoms 11214
        Neurologic Manifestations 10449
          Dyskinesias 2234
            Hyperkinesis 42
              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 19137
    disease of anatomical entity 18450
      nervous system disease 14357
        central nervous system disease 12630
          brain disease 11847
            movement disease 2633
              Dyskinesias 2234
                Hyperkinesis 42
                  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