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
G
Adcy1
adenylate cyclase 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16914643
NCBI chr11:7,013,433...7,128,506
Ensembl chr11:7,013,489...7,128,506
G
Adcy8
adenylate cyclase 8
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16914643
NCBI chr15:64,570,884...64,794,145
Ensembl chr15:64,568,933...64,794,145
G
Adora2a
adenosine A2a receptor
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:15187444
NCBI chr10:75,152,711...75,170,626
Ensembl chr10:75,152,711...75,170,618
G
Bche
butyrylcholinesterase
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:12019200
NCBI chr 3:73,543,138...73,615,767
Ensembl chr 3:73,543,141...73,615,748
G
Calca
calcitonin/calcitonin-related polypeptide, alpha
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:6293644 PMID:6686863
NCBI chr 7:114,225,223...114,236,145
Ensembl chr 7:114,230,713...114,235,592
G
Cck
cholecystokinin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:3561887 PMID:3735805
NCBI chr 9:121,318,890...121,324,728
Ensembl chr 9:121,318,890...121,324,760
G
Cntnap2
contactin associated protein-like 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21962519
NCBI chr 6:45,036,995...47,278,330
Ensembl chr 6:45,036,291...47,281,147
G
Crhr1
corticotropin releasing hormone receptor 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19339610
NCBI chr11:104,021,289...104,066,349
Ensembl chr11:104,023,681...104,066,349
G
Disc1
disrupted in schizophrenia 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:26754951
NCBI chr 8:125,773,928...125,991,882
Ensembl chr 8:125,780,934...125,988,597
G
Drd1
dopamine receptor D1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:24418703
NCBI chr13:54,205,202...54,209,677
Ensembl chr13:54,205,202...54,209,724
G
Drd2
dopamine receptor D2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1975278 PMID:24418703
NCBI chr 9:49,251,703...49,319,468
Ensembl chr 9:49,251,927...49,319,477
G
Drd3
dopamine receptor D3
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:16026479
NCBI chr16:43,574,285...43,646,353
Ensembl chr16:43,574,389...43,643,295
G
Drd4
dopamine receptor D4
ameliorates
ISO
mRNA:decreased expression:midbrain
RGD
PMID:12459514 PMID:11967637
RGD:401960114 , RGD:401960108
NCBI chr 7:140,871,931...140,874,868
Ensembl chr 7:140,871,919...140,876,377
G
Fos
FBJ osteosarcoma oncogene
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18355967
NCBI chr12:85,520,664...85,524,048
Ensembl chr12:85,520,664...85,524,047
G
Gabbr1
gamma-aminobutyric acid type B receptor subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16990508
NCBI chr17:37,356,888...37,385,197
Ensembl chr17:37,356,858...37,385,959
G
Gcg
glucagon
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:9798264
NCBI chr 2:62,304,874...62,313,997
Ensembl chr 2:62,304,874...62,313,994
G
Git1
GIT ArfGAP 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21499268
NCBI chr11:77,384,114...77,398,600
Ensembl chr11:77,384,388...77,398,612
G
Gria1
glutamate receptor, ionotropic, AMPA1 (alpha 1)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18171924 PMID:19036973
NCBI chr11:56,902,342...57,221,070
Ensembl chr11:56,902,213...57,221,070
G
Gria2
glutamate receptor, ionotropic, AMPA2 (alpha 2)
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18171924
NCBI chr 3:80,588,757...80,711,534
Ensembl chr 3:80,588,757...80,710,142
G
Htr2a
5-hydroxytryptamine (serotonin) receptor 2A
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16300424 PMID:19347958
NCBI chr14:74,878,314...74,944,299
Ensembl chr14:74,878,280...74,946,934
G
Htr2c
5-hydroxytryptamine (serotonin) receptor 2C
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:19347958
NCBI chr X:145,745,509...145,980,273
Ensembl chr X:145,745,509...145,980,273
G
Htr7
5-hydroxytryptamine (serotonin) receptor 7
IMP
RGD
PMID:18332680
RGD:6482186
NCBI chr19:35,935,815...36,035,533
Ensembl chr19:35,936,134...36,034,907
G
Il2
interleukin 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:8241462
NCBI chr 3:37,174,862...37,180,103
Ensembl chr 3:37,174,672...37,180,108
G
Map6
microtubule-associated protein 6
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:16046005
NCBI chr 7:98,916,270...98,986,344
Ensembl chr 7:98,916,654...98,986,344
G
Ngf
nerve growth factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:1661212
NCBI chr 3:102,377,235...102,428,329
Ensembl chr 3:102,377,235...102,428,329
G
Nppc
natriuretic peptide type C
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:11860464
NCBI chr 1:86,594,015...86,598,295
Ensembl chr 1:86,594,013...86,598,293
G
Nps
neuropeptide S
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19339610
NCBI chr 7:134,870,348...134,874,671
Ensembl chr 7:134,860,432...134,874,671
G
Npy
neuropeptide Y
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19063928
NCBI chr 6:49,799,690...49,806,487
Ensembl chr 6:49,799,690...49,806,487
G
Ntrk2
neurotrophic tyrosine kinase, receptor, type 2
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:20826313 PMID:20947769
NCBI chr13:58,954,363...59,281,782
Ensembl chr13:58,954,383...59,281,784
G
Nts
neurotensin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:3748325 PMID:6682440
NCBI chr10:102,317,617...102,326,294
Ensembl chr10:102,317,617...102,326,347
G
Oxt
oxytocin
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:18092152
NCBI chr 2:130,416,432...130,418,974
Ensembl chr 2:130,418,093...130,418,974
G
Slc6a3
solute carrier family 6 (neurotransmitter transporter, dopamine), member 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18347339 PMID:18588534
NCBI chr13:73,684,270...73,726,791
Ensembl chr13:73,684,866...73,726,791
G
Sncg
synuclein, gamma
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:18588534
NCBI chr14:34,092,231...34,096,626
Ensembl chr14:34,092,231...34,096,746
G
Th
tyrosine hydroxylase
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9822156
NCBI chr 7:142,446,516...142,453,732
Ensembl chr 7:142,446,489...142,484,865
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 chr17:8,742,719...9,205,480
Ensembl chr17:8,744,204...9,205,480
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 chr16:34,974,933...35,126,108
Ensembl chr16:34,975,247...35,126,108
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 chr19:42,078,590...42,110,657
Ensembl chr19:42,078,909...42,110,526
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 PMID:35618198 PMID:38296634 More...
NCBI chr 1:74,605,490...74,627,308
Ensembl chr 1:74,604,286...74,627,405
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all