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 chrNW_004624740:6,915,445...7,003,299
Ensembl chrNW_004624740:6,922,879...7,003,658
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Adcy8
adenylate cyclase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16914643
NCBI chrNW_004624735:24,891,803...25,149,817
Ensembl chrNW_004624735:24,891,583...25,149,900
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Adora2a
adenosine A2a receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15187444
NCBI chrNW_004624747:9,846,254...9,860,938
Ensembl chrNW_004624747:9,851,153...9,860,094
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Bche
butyrylcholinesterase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12019200
NCBI chrNW_004624730:43,793,550...43,849,169
Ensembl chrNW_004624730:43,793,040...43,843,519
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Calca
calcitonin related polypeptide alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:6293644 PMID:6686863
NCBI chrNW_004624766:6,764,388...6,771,396
Ensembl chrNW_004624766:6,766,185...6,768,173
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Cck
cholecystokinin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:3561887 PMID:3735805
NCBI chrNW_004624730:77,310,080...77,314,258
Ensembl chrNW_004624730:77,309,633...77,314,384
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Cntnap2
contactin associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21962519
NCBI chrNW_004624800:7,182,588...9,280,407
Ensembl chrNW_004624800:7,181,020...9,279,678
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Crhr1
corticotropin releasing hormone receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19339610
NCBI chrNW_004624849:2,484,144...2,528,130
Ensembl chrNW_004624849:2,484,109...2,528,223
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Disc1
DISC1 scaffold protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26754951
NCBI chrNW_004624775:17,820,590...18,165,640
Ensembl chrNW_004624775:17,831,272...18,165,668
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Drd1
dopamine receptor D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24418703
NCBI chrNW_004624733:14,517,540...14,522,173
Ensembl chrNW_004624733:14,518,146...14,520,905
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Drd2
dopamine receptor D2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1975278 PMID:24418703
NCBI chrNW_004624784:8,828,589...8,906,617
Ensembl chrNW_004624784:8,827,006...8,865,529
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Drd3
dopamine receptor D3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16026479
NCBI chrNW_004624731:34,318,733...34,369,111
Ensembl chrNW_004624731:34,319,130...34,363,184
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Drd4
dopamine receptor D4
ameliorates
ISO
mRNA:decreased expression:midbrain
RGD
PMID:11967637 PMID:12459514
RGD:401960108 RGD:401960114
NCBI chrNW_004624766:21,834,093...21,837,314
Ensembl chrNW_004624766:21,834,169...21,836,710
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Fos
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18355967
NCBI chrNW_004624734:26,424,053...26,427,431
Ensembl chrNW_004624734:26,423,079...26,427,732
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Gabbr1
gamma-aminobutyric acid type B receptor subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16990508
NCBI chrNW_004624754:25,425,208...25,452,600
Ensembl chrNW_004624754:25,425,055...25,455,656
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Gcg
glucagon
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9798264
NCBI chrNW_004624732:3,361,897...3,370,020
Ensembl chrNW_004624732:3,362,234...3,370,536
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Git1
GIT ArfGAP 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21499268
NCBI chrNW_004624786:2,071,376...2,086,929
Ensembl chrNW_004624786:2,071,382...2,086,910
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Gria1
glutamate ionotropic receptor AMPA type subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18171924 PMID:19036973
NCBI chrNW_004624733:35,337,039...35,648,184
Ensembl chrNW_004624733:35,339,683...35,647,349
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Gria2
glutamate ionotropic receptor AMPA type subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18171924
NCBI chrNW_004624848:1,132,939...1,261,110
Ensembl chrNW_004624848:1,135,032...1,261,087
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Htr2a
5-hydroxytryptamine receptor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16300424 PMID:19347958
NCBI chrNW_004624748:8,154,288...8,223,226
Ensembl chrNW_004624748:8,155,107...8,223,259
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Htr2c
5-hydroxytryptamine receptor 2C
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19347958
NCBI chrNW_004624940:1,040,744...1,299,266
Ensembl chrNW_004624940:1,040,911...1,157,057
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Htr7
5-hydroxytryptamine receptor 7
ISO
RGD
PMID:18332680
RGD:6482186
NCBI chrNW_004624737:1,960,985...2,067,086
Ensembl chrNW_004624737:1,960,057...2,067,038
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Il2
interleukin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8241462
NCBI chrNW_004624777:2,885,537...2,890,453
Ensembl chrNW_004624777:2,885,535...2,890,453
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Map6
microtubule associated protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16046005
NCBI chrNW_004624817:1,489,020...1,554,398
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Ngf
nerve growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1661212
NCBI chrNW_004624772:11,009,765...11,070,050
Ensembl chrNW_004624772:11,010,845...11,070,017
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Nppc
natriuretic peptide C
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11860464
NCBI chrNW_004624843:4,869,278...4,873,444
Ensembl chrNW_004624843:4,869,614...4,873,448
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Nps
neuropeptide S
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19339610
NCBI chrNW_004624737:19,447,495...19,451,005
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Npy
neuropeptide Y
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19063928
NCBI chrNW_004624739:6,277,704...6,285,454
Ensembl chrNW_004624739:6,277,612...6,285,397
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Ntrk2
neurotrophic receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20826313 PMID:20947769
NCBI chrNW_004624809:8,274,736...8,622,287
Ensembl chrNW_004624809:8,276,951...8,616,765
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Nts
neurotensin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:3748325 PMID:6682440
NCBI chrNW_004624837:5,035,237...5,045,560
Ensembl chrNW_004624837:5,035,159...5,045,651
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Oxt
oxytocin/neurophysin I prepropeptide
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18092152
NCBI chrNW_004624741:4,200,594...4,201,416
Ensembl chrNW_004624741:4,200,478...4,201,580
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Slc6a3
solute carrier family 6 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18347339 PMID:18588534
NCBI chrNW_004624751:694,165...720,287
Ensembl chrNW_004624751:694,099...719,465
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Sncg
synuclein gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18588534
NCBI chrNW_004624841:192,396...196,568
Ensembl chrNW_004624841:192,398...196,064
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Th
tyrosine hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9822156
NCBI chrNW_004624767:15,003,073...15,010,207
Ensembl chrNW_004624767:15,003,092...15,010,154
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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 chrNW_004624785:13,208,518...13,885,261
Ensembl chrNW_004624785:13,497,495...13,880,345
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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 chrNW_004624912:1,632,469...1,767,885
Ensembl chrNW_004624912:1,632,107...1,768,462
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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 chrNW_004624737:9,271,519...9,309,843
Ensembl chrNW_004624737:9,271,546...9,308,180
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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 chrNW_004624823:6,397,211...6,417,671
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