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
GViewer not supported for the selected species.
G
Adcy1
adenylate cyclase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16914643
NCBI chrNW_004955456:6,833,992...6,930,990
Ensembl chrNW_004955456:6,841,637...6,930,990
G
Adcy8
adenylate cyclase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16914643
NCBI chrNW_004955461:5,497,708...5,725,574
Ensembl chrNW_004955461:5,497,628...5,725,574
G
Adora2a
adenosine A2a receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15187444
NCBI chrNW_004955455:7,886,720...7,906,214
Ensembl chrNW_004955455:7,895,974...7,906,505
G
Bche
butyrylcholinesterase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12019200
NCBI chrNW_004955448:15,327,374...15,396,827
Ensembl chrNW_004955448:15,329,273...15,396,970
G
Cck
cholecystokinin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:3561887 PMID:3735805
NCBI chrNW_004955420:28,438,806...28,443,458
Ensembl chrNW_004955420:28,438,806...28,443,458
G
Cntnap2
contactin associated protein 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21962519
NCBI chrNW_004955491:1,983,002...3,982,510
Ensembl chrNW_004955491:1,984,050...3,981,830
G
Crhr1
corticotropin releasing hormone receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19339610
NCBI chrNW_004955478:10,380,185...10,390,838
Ensembl chrNW_004955478:10,379,287...10,404,825
G
Disc1
DISC1 scaffold protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26754951
NCBI chrNW_004955492:6,946,528...7,239,328
Ensembl chrNW_004955492:6,953,389...7,239,328
G
Drd1
dopamine receptor D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24418703
NCBI chrNW_004955408:28,003,229...28,006,595
Ensembl chrNW_004955408:28,003,229...28,006,595
G
Drd2
dopamine receptor D2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1975278 PMID:24418703
NCBI chrNW_004955412:15,054,255...15,114,558
Ensembl chrNW_004955412:15,054,038...15,114,573
G
Drd3
dopamine receptor D3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16026479
NCBI chrNW_004955427:14,219,519...14,252,178
Ensembl chrNW_004955427:14,219,594...14,252,178
G
Drd4
dopamine receptor D4
ameliorates
ISO
mRNA:decreased expression:midbrain
RGD
PMID:11967637 PMID:12459514
RGD:401960108 RGD:401960114
NCBI chrNW_004955476:11,424,347...11,426,962
Ensembl chrNW_004955476:11,424,411...11,426,960
G
Fos
Fos proto-oncogene, AP-1 transcription factor subunit
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18355967
NCBI chrNW_004955523:307,181...310,728
Ensembl chrNW_004955523:305,728...310,728
G
Gabbr1
gamma-aminobutyric acid type B receptor subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16990508
NCBI chrNW_004955583:85,255...115,140
Ensembl chrNW_004955583:85,255...115,189
G
Gcg
glucagon
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9798264
NCBI chrNW_004955449:11,708,152...11,716,429
Ensembl chrNW_004955449:11,708,152...11,716,429
G
Git1
GIT ArfGAP 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21499268
NCBI chrNW_004955481:3,671,728...3,681,279
Ensembl chrNW_004955481:3,670,111...3,685,051
G
Gria1
glutamate ionotropic receptor AMPA type subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18171924 PMID:19036973
NCBI chrNW_004955408:7,912,223...8,226,241
Ensembl chrNW_004955408:7,912,592...8,223,570
G
Gria2
glutamate ionotropic receptor AMPA type subunit 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18171924
NCBI chrNW_004955471:9,970,396...10,108,871
Ensembl chrNW_004955471:9,970,403...10,108,898
G
Htr2a
5-hydroxytryptamine receptor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16300424 PMID:19347958
NCBI chrNW_004955431:583,165...646,991
Ensembl chrNW_004955431:580,713...647,345
G
Htr2c
5-hydroxytryptamine receptor 2C
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19347958
NCBI chrNW_004955490:912,615...1,126,347
Ensembl chrNW_004955490:910,415...1,126,373
G
Htr7
5-hydroxytryptamine receptor 7
ISO
RGD
PMID:18332680
RGD:6482186
NCBI chrNW_004955425:2,321,420...2,420,420
Ensembl chrNW_004955425:2,321,420...2,420,530
G
Il2
interleukin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8241462
NCBI chrNW_004955428:18,163,010...18,168,157
Ensembl chrNW_004955428:18,162,467...18,168,265
G
Map6
microtubule associated protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16046005
NCBI chrNW_004955414:16,203,930...16,275,798
G
Ngf
nerve growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1661212
NCBI chrNW_004955435:18,581,889...18,633,330
Ensembl chrNW_004955435:18,581,808...18,601,059
G
Nppc
natriuretic peptide C
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11860464
NCBI chrNW_004955453:3,884,580...3,888,494
Ensembl chrNW_004955453:3,884,560...3,888,850
G
Npy
neuropeptide Y
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19063928
NCBI chrNW_004955410:26,348,388...26,355,232
Ensembl chrNW_004955410:26,348,504...26,355,297
G
Ntrk2
neurotrophic receptor tyrosine kinase 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20826313 PMID:20947769
NCBI chrNW_004955432:2,284,283...2,629,631
Ensembl chrNW_004955432:2,288,898...2,630,878
G
Nts
neurotensin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:3748325 PMID:6682440
NCBI chrNW_004955405:23,696,258...23,758,487
Ensembl chrNW_004955405:23,748,280...23,758,529
G
Slc6a3
solute carrier family 6 member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18347339 PMID:18588534
NCBI chrNW_004955504:721,470...747,553
Ensembl chrNW_004955504:721,429...747,630
G
Sncg
synuclein gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18588534
NCBI chrNW_004955510:5,958,276...5,961,719
Ensembl chrNW_004955510:5,958,276...5,961,719
G
Th
tyrosine hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9822156
NCBI chrNW_004955422:13,943,590...13,951,102
Ensembl chrNW_004955422:13,943,552...13,951,137
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 PMID:32581362 More...
NCBI chrNW_004955439:16,114,530...16,370,648
Ensembl chrNW_004955439:16,114,530...16,365,146
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 chrNW_004955507:3,729,947...3,761,703
Ensembl chrNW_004955507:3,730,071...3,756,880
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 PMID:35618198 PMID:38296634 More...
NCBI chrNW_004955453:14,766,665...14,786,403
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all