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
Accession: DOID:9002362
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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ADCY1
adenylate cyclase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16914643
NCBI chr18:50,043,572...50,143,549
Ensembl chr18:50,051,364...50,143,628
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ADCY8
adenylate cyclase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16914643
NCBI chr 4:9,645,398...9,867,065
Ensembl chr 4:9,645,659...9,866,550
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ADORA2A
adenosine A2a receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15187444
NCBI chr14:49,467,186...49,485,845
Ensembl chr14:49,468,877...49,485,850
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BCHE
butyrylcholinesterase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12019200
NCBI chr13:104,946,732...105,007,568
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CALCB
calcitonin-related polypeptide beta
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:6293644 PMID:6686863
NCBI chr 2:44,043,135...44,048,651
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CCK
cholecystokinin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:3561887 PMID:3735805
NCBI chr13:25,940,674...25,945,879
Ensembl chr13:25,937,645...25,945,793
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CNTNAP2
contactin associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21962519
NCBI chr 9:109,740,510...111,781,144
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CRHR1
corticotropin releasing hormone receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19339610
NCBI chr12:17,251,361...17,306,308
Ensembl chr12:17,252,020...17,306,285
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DISC1
DISC1 scaffold protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26754951
NCBI chr14:58,606,441...58,963,954
Ensembl chr14:58,606,464...58,963,563
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DRD1
dopamine receptor D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24418703
NCBI chr16:49,189,555...49,193,722
Ensembl chr16:49,189,602...49,191,976
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DRD2
dopamine receptor D2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1975278 PMID:24418703
NCBI chr 9:41,068,618...41,135,262
Ensembl chr 9:41,068,779...41,133,599
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DRD3
dopamine receptor D3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16026479
NCBI chr13:145,769,294...145,817,997
Ensembl chr13:145,771,774...145,819,168
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DRD4
dopamine receptor D4
ameliorates
ISO
mRNA:decreased expression:midbrain
RGD
PMID:11967637 PMID:12459514
RGD:401960108 RGD:401960114
NCBI chr 2:398,766...401,539
Ensembl chr 2:398,766...402,433
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FOS
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18355967
NCBI chr 7:98,449,508...98,451,971
Ensembl chr 7:98,449,349...98,455,554
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GABBR1
gamma-aminobutyric acid type B receptor subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16990508
NCBI chr 7:22,547,938...22,577,639
Ensembl chr 7:22,548,566...22,577,771
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GCG
glucagon
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9798264
NCBI chr15:68,800,557...68,810,268
Ensembl chr15:68,800,560...68,810,242
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GIT1
GIT ArfGAP 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21499268
NCBI chr12:45,768,172...45,783,652
Ensembl chr12:45,768,176...45,783,658
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GRIA1
glutamate ionotropic receptor AMPA type subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18171924 PMID:19036973
NCBI chr16:69,332,786...69,654,366
Ensembl chr16:69,332,587...69,655,380
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GRIA2
glutamate ionotropic receptor AMPA type subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18171924
NCBI chr 8:46,078,122...46,247,144
Ensembl chr 8:46,078,276...46,241,914
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HTR2A
5-hydroxytryptamine receptor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16300424 PMID:19347958
NCBI chr11:20,555,939...20,620,225
Ensembl chr11:20,555,963...20,619,625
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HTR2C
5-hydroxytryptamine receptor 2C
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19347958
NCBI chr X:94,053,415...94,313,352
Ensembl chr X:94,053,456...94,313,355
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HTR7
5-hydroxytryptamine receptor 7
ISO
RGD
PMID:18332680
RGD:6482186
NCBI chr14:102,443,312...102,548,894
Ensembl chr14:102,444,588...102,548,907
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IL2
interleukin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8241462
NCBI chr 8:101,640,938...101,645,683
Ensembl chr 8:101,640,944...101,645,609
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MAP6
microtubule associated protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16046005
NCBI chr 9:9,810,923...9,937,651
Ensembl chr 9:9,810,926...9,901,494
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NGF
nerve growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1661212
NCBI chr 4:105,256,691...105,307,843
Ensembl chr 4:105,256,749...105,307,837
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NPPC
natriuretic peptide C
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11860464
NCBI chr15:132,504,669...132,509,688
Ensembl chr15:132,506,474...132,509,673
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NPS
neuropeptide S
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19339610
NCBI chr14:136,835,630...136,839,511
Ensembl chr14:136,836,352...136,839,510
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NPY
neuropeptide Y
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19063928
NCBI chr18:47,985,796...47,993,726
Ensembl chr18:47,985,725...47,992,667
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NTRK2
neurotrophic receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20826313 PMID:20947769
NCBI chr10:30,030,050...30,429,938
Ensembl chr10:30,033,405...30,429,882
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NTS
neurotensin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:3748325 PMID:6682440
NCBI chr 5:96,261,299...96,272,947
Ensembl chr 5:96,260,560...96,272,976
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OXT
oxytocin/neurophysin I prepropeptide
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18092152
NCBI chr17:32,605,586...32,606,449
Ensembl chr17:32,605,586...32,606,546
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SLC6A3
solute carrier family 6 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18347339 PMID:18588534
NCBI chr16:79,186,114...79,220,302
Ensembl chr16:79,186,108...79,220,297
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SNCG
synuclein gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18588534
NCBI chr14:87,916,353...87,922,111
Ensembl chr14:87,904,659...87,922,095
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TH
tyrosine hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9822156
NCBI chr 2:1,499,628...1,506,180
Ensembl chr 2:1,499,620...1,506,170
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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 PMID:32581362 More...
NCBI chr 1:3,120,418...3,394,236
Ensembl chr 1:2,829,411...3,392,651
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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 chr13:136,965,746...137,133,795
Ensembl chr13:136,972,801...137,135,347
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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 chr14:109,008,143...109,043,517
Ensembl chr14:109,008,161...109,043,515
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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 PMID:35618198 PMID:38296634 More...
NCBI chr15:120,688,836...120,707,743
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