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
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16914643
NCBI chr 7:45,574,140...45,723,116
Ensembl chr 7:45,574,140...45,723,116
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ADCY8
adenylate cyclase 8
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16914643
NCBI chr 8:130,780,301...131,040,909
Ensembl chr 8:130,780,301...131,040,909
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ADORA2A
adenosine A2a receptor
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:15187444
NCBI chr22:24,423,597...24,442,357
Ensembl chr22:24,417,879...24,442,357
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BCHE
butyrylcholinesterase
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:12019200
NCBI chr 3:165,772,904...165,837,423
Ensembl chr 3:165,772,904...165,837,462
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CALCA
calcitonin related polypeptide alpha
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:6293644 PMID:6686863
NCBI chr11:14,966,668...14,972,351
Ensembl chr11:14,966,622...14,972,354
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CCK
cholecystokinin
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:3561887 PMID:3735805
NCBI chr 3:42,257,826...42,266,185
Ensembl chr 3:42,257,825...42,266,185
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CNTNAP2
contactin associated protein 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21962519
NCBI chr 7:146,116,801...148,420,998
Ensembl chr 7:146,116,002...148,420,998
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CRHR1
corticotropin releasing hormone receptor 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19339610
NCBI chr17:45,784,320...45,835,828
Ensembl chr17:45,784,277...45,835,828
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DISC1
DISC1 scaffold protein
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:26754951
NCBI chr 1:231,626,790...232,041,272
Ensembl chr 1:231,626,790...232,041,272
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DRD1
dopamine receptor D1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:24418703
NCBI chr 5:175,440,036...175,444,182
Ensembl chr 5:175,440,036...175,444,182
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DRD2
dopamine receptor D2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:1975278 PMID:24418703
NCBI chr11:113,409,605...113,475,398
Ensembl chr11:113,409,605...113,475,691
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DRD3
dopamine receptor D3
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:16026479
NCBI chr 3:114,127,580...114,199,407
Ensembl chr 3:114,127,580...114,199,407
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DRD4
dopamine receptor D4
ameliorates
ISO
mRNA:decreased expression:midbrain
RGD
PMID:12459514 PMID:11967637
RGD:401960114 , RGD:401960108
NCBI chr11:637,269...640,706
Ensembl chr11:637,269...640,706
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FOS
Fos proto-oncogene, AP-1 transcription factor subunit
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18355967
NCBI chr14:75,278,828...75,282,230
Ensembl chr14:75,278,826...75,283,190
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GABBR1
gamma-aminobutyric acid type B receptor subunit 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16990508
NCBI chr 6:29,602,238...29,633,183
Ensembl chr 6:29,555,629...29,633,976
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GCG
glucagon
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:9798264
NCBI chr 2:162,142,882...162,152,247
Ensembl chr 2:162,142,882...162,152,404
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GIT1
GIT ArfGAP 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:21499268
NCBI chr17:29,573,475...29,589,648
Ensembl chr17:29,573,475...29,594,054
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GRIA1
glutamate ionotropic receptor AMPA type subunit 1
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18171924 PMID:19036973
NCBI chr 5:153,489,615...153,813,869
Ensembl chr 5:153,489,615...153,813,869
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GRIA2
glutamate ionotropic receptor AMPA type subunit 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18171924
NCBI chr 4:157,220,120...157,366,075
Ensembl chr 4:157,204,182...157,387,146
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HTR2A
5-hydroxytryptamine receptor 2A
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16300424 PMID:19347958
NCBI chr13:46,831,546...46,898,082
Ensembl chr13:46,831,546...46,897,076
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HTR2C
5-hydroxytryptamine receptor 2C
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:19347958
NCBI chr X:114,584,086...114,910,061
Ensembl chr X:114,584,078...114,910,061
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HTR7
5-hydroxytryptamine receptor 7
ISO
RGD
PMID:18332680
RGD:6482186
NCBI chr10:90,740,823...90,858,039
Ensembl chr10:90,740,823...90,858,039
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IL2
interleukin 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:8241462
NCBI chr 4:122,451,470...122,456,725
Ensembl chr 4:122,451,470...122,456,725
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MAP6
microtubule associated protein 6
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:16046005
NCBI chr11:75,586,918...75,669,038
Ensembl chr11:75,586,918...75,669,038
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NGF
nerve growth factor
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:1661212
NCBI chr 1:115,285,917...115,338,249
Ensembl chr 1:115,285,904...115,338,770
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NPPC
natriuretic peptide C
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:11860464
NCBI chr 2:231,921,809...231,926,396
Ensembl chr 2:231,921,809...231,926,396
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NPS
neuropeptide S
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19339610
NCBI chr10:127,549,309...127,553,540
Ensembl chr10:127,549,309...127,553,540
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NPY
neuropeptide Y
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:19063928
NCBI chr 7:24,284,190...24,291,862
Ensembl chr 7:24,284,188...24,291,862
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NTRK2
neurotrophic receptor tyrosine kinase 2
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:20826313 PMID:20947769
NCBI chr 9:84,668,522...85,027,054
Ensembl chr 9:84,668,375...85,095,751
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NTS
neurotensin
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:3748325 PMID:6682440
NCBI chr12:85,874,295...85,882,992
Ensembl chr12:85,874,295...85,882,992
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OXT
oxytocin/neurophysin I prepropeptide
EXP
CTD Direct Evidence: therapeutic
CTD
PMID:18092152
NCBI chr20:3,071,620...3,072,517
Ensembl chr20:3,071,620...3,072,517
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SLC6A3
solute carrier family 6 member 3
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18347339 PMID:18588534
NCBI chr 5:1,392,794...1,445,440
Ensembl chr 5:1,392,794...1,445,440
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SNCG
synuclein gamma
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:18588534
NCBI chr10:86,955,759...86,963,258
Ensembl chr10:86,958,599...86,963,258
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TH
tyrosine hydroxylase
EXP
CTD Direct Evidence: marker/mechanism
CTD
PMID:9822156
NCBI chr11:2,163,929...2,171,815
Ensembl chr11:2,163,929...2,171,815
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PDE10A
phosphodiesterase 10A
IAGP
ClinVar Annotator: match by term: Dyskinesia, limb and orofacial, infantile-onset ClinVar Annotator: match by term: PDE10A-related condition ClinVar Annotator: match by term: Dyskinesia, limb and orofacial, infantile-onset | ClinVar Annotator: match by term: PDE10A-related condition
ClinVar OMIM
PMID:25741868 PMID:27058446 PMID:27058447 PMID:28492532 PMID:29159890 PMID:32581362 More...
NCBI chr 6:165,327,289...165,988,052
Ensembl chr 6:165,327,287...165,988,117
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ADCY5
adenylate cyclase 5
IAGP
ClinVar Annotator: match by term: Neurodevelopmental disorder with hyperkinetic movements and dyskinesia
ClinVar OMIM
PMID:25741868 PMID:28492532 PMID:28971144 PMID:33704598 PMID:34631954
NCBI chr 3:123,282,296...123,449,090
Ensembl chr 3:123,282,296...123,449,090
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LOC130004478
ATAC-STARR-seq lymphoblastoid silent region 2683
IAGP
ClinVar Annotator: match by term: Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities
ClinVar
PMID:30564627
NCBI chr10:97,640,761...97,640,990
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PI4K2A
phosphatidylinositol 4-kinase type 2 alpha
IAGP
ClinVar Annotator: match by term: Neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities
ClinVar OMIM
PMID:30564627 PMID:35880319
NCBI chr10:97,640,671...97,676,434
Ensembl chr10:97,640,671...97,676,434
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ZNF142
zinc finger protein 142
IAGP
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 2:218,633,329...218,659,623
Ensembl chr 2:218,633,329...218,659,655
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